Hemoglobin Electrophoresis Research Articles

Efficacy and safety of thalidomide in patients with β-thalassemia intermedia and major.

To investigate the short-term and long-term efficacy and safety of thalidomide in the treatment of intermediate and severe β-thalassemia. We analyzed patients with intermediate and severe β-thalassemia treated at our hospital from February 2019 to February 2024. Patients who received treatment for more than 3 months were included. The efficacy of thalidomide was assessed by comparing changes in hemoglobin (Hb), ferritin, bilirubin, and Hb electrophoresis before and after treatment. Adverse drug reactions during treatment were also recorded. A total of 42 β-thalassemia patients were included, with thalidomide dosages ranging from 75 to 150 mg/d. The response rates at 1, 3, and 6 months of treatment were 73.8% (31/42), 75.0% (24/32), and 94.7% (18/19), respectively. The increase in Hb levels was primarily attributed to fetal hemoglobin (HbF). After 1 month of treatment, the HbF percentage increased from a baseline of 34.04 ± 27.58% to 56.25 ± 28.40% (P < .001). At 3 and 6 months, HbF further increased to 67.21 ± 27.12% (P < .001) and 73.93 ± 22.96% (P < .001), respectively. The average duration of thalidomide treatment was 25.3 ± 9.2 months (range: 4-60 months), with 6 patients treated for over 60 months and 18 patients for over 48 months. Two homozygous patients who failed thalidomide treatment achieved Hb levels above 100 g/L and discontinued transfusion therapy after 3 months of hydroxyurea treatment. The most common adverse reaction was somnolence, which was mild and tolerable. Thalidomide demonstrates significant and sustained therapeutic effects in β-thalassemia patients. The adverse reactions are mild and tolerable, allowing patients to continue treatment.

Advanced Bio-sensing Technologies for Sickle Cell Disease Diagnosis.

Sickle cell diseases are widespread in regions encompassing the Mediterranean, Middle East, sub-Saharan Africa, and specific parts of Asia, primarily due to the abnormal production of hemoglobin S. This genetic blood disorder stems from a mutation in the beta-globin gene, a crucial component of hemoglobin and the heme-containing protein found in red blood cells. Point mutations in the hemoglobin gene can be inherited as a heterozygous or homozygous pattern. These mutations disrupt the normal configuration of the protein, impeding its physiological function and altering the cell's shape, giving it a sickle-like appearance. The resulting sickle cells can lead to organ damage, intense physical discomfort, and anemia; in severe cases, the condition can be fatal. Early detection and effective treatment methods have the potential to progressively reduce the associated mortality rate over time. To diagnose sickle cell disease and its carrier states with unparalleled specificity, a variety of approaches have been developed. The most common method includes differential blood cell counts and their assessment, high-performance liquid chromatography (HPLC) and hemoglobin electrophoresis. Furthermore, innovative sensing technologies are currently under development, encompassing user-friendly, cost-effective and portable point-of-care devices that are capable of timely diagnosis at the genetic and molecular levels of these disorders. The review delves into a range of established and innovative strategies utilized in the detection of sickle cell disease, also underscoring the essential role played by diverse bio-sensing techniques in propelling the advancement of early diagnosis of SCD.

The Utility of Micro-R/Hypo-He Ratio Cut-off for Distinguishing Iron Deficiency Anemia and Minor Thalassemia

Thalassemia is a genetic disease with impaired synthesis of the globin chain that causes anemia. Thalassemia and Iron Deficiency Anemia (IDA) are both microcytic hypochromic anemia but have different proportions of hypochromic and microcytic erythrocytes due to differences in disease mechanisms. Research parameters of the hematology analyzer: %Micro-R, %Hypo-He, and MH ratio can be used as early screening for thalassemia and IDA. This study aimed to evaluate the cut-off of %Micro-R, %Hypo-He, and MH ratio to differentiate thalassemia from IDA. A cross-sectional study was carried out on 217 subjects. Subjects were divided into two groups, thalassemia and IDA based on hemoglobin electrophoresis, hematology examination, and Mentzer index. Differences and cut-off values of %Micro-R, %Hypo-He, and MH ratio between the two groups were analyzed. The number of collected data was 134, consisting of 89 thalassemia patients and 45 IDA patients. Thalassemia patients had a median %Micro-R value of 51.2 (4.3-79.0), %Hypo-He value of 7.2 (0.2-50.2), and MH ratio of 7.17 (1.10-64.50), higher than IDA patients (p=0.000; p=0.176; p=0.000). The optimal cut-off value for %Micro-R in discriminating thalassemia trait from IDA was &gt;12.7, with the area under the ROC curve (AUC) of 0.945, sensitivity of 92.1%, and specificity of 82.2%. The cut-off value for MH ratio &gt; 3.27 with AUC 0.833, sensitivity of 85.4%, and specificity 77.8% showed lower performance of cut-off value compared to %Micro-R. The algorithm using %Micro-R and MH ratio was proposed for thalassemia trait screening. High %Micro-R and MH are suggestive of thalassemia trait than of IDA.

Case Report: Hemoglobin Hasharon with Concurrent Alpha Thalassemia in a Patient with Maple Syrup Urine Disease

Abstract Hemoglobin Hasharon (Hb Hasharon) is an unstable hemoglobin variant stemming from a mutation in the alpha globin gene. This mutation involves the replacement of aspartic acid with histidine at position 47 of the alpha globin chain. Initially identified in 1967 in Israel, Hb Hasharon has since been sporadically reported in various populations, including in Italy, Greece, Germany, and among Latin Americans of Mediterranean descent. Only three English articles have reported several cases of the combined alpha thalassemia deletion and Hasharon mutation, all between 1978-1980. Notably, there has been no prior report of Hb Hasharon with concurrent alpha thalassemia in patients with maple syrup urine disease (MSUD). We hereby present the first case of Hb Hasharon with alpha thalassemia in a patient diagnosed with MSUD. This patient, a 16-month-old female, received a prenatal diagnosis of MSUD through amniocentesis, confirming homozygosity for a known pathogenic variant in DBT (c.75_76delAT, p.C26wfsX2). Prompt initiation of formula feeding has effectively controlled her MSUD. The patient was referred for further evaluation due to hemoglobin newborn screen showing hemoglobin A, Hb F and “variant hemoglobin”. Her parents denied any family history of hemoglobinopathy. Her complete blood count was predominantly normal except for mild microcytosis, with a mean corpuscular volume of 69.1 fl (normal range 70.0-86.0 fl). The patient didn’t exhibit neonatal jaundice or any other signs or symptoms of hemolysis. The reticulocyte count was also within normal limits. The hemoglobin electrophoresis results revealed a complex pattern, with 28.8% of an unknown hemoglobin between zone 4 and 5 on capillary zone electrophoresis (CZE) as well as a possible A2 variant in zone 1. High-performance liquid chromatography (HPLC) indicated a 29.1% peak at a retention time of 4.72 minutes, along with several smaller peaks, that were indicative of the degradation of the unstable unknown hemoglobin. Although the zones and retention time aligned with Hb Hasharon, the percentage differed from the expected range of 19-20% in CZE and 18-21% in HPLC for this variant, prompting the team to order alpha and beta globin sequencing tests. Beta globin gene complete sequencing yielded negative results, while the sequencing of alpha globin gene revealed that the patient carries one copy of the -alpha3.7 alpha-globin deletion and one copy of the c.142G&amp;gt;C (p.Asp48His) variant in the alpha2-globin (HBA2) gene, resulting in an -alpha/alpha2alpha1 genotype with Hb Hasharon. While Hb Hasharon is generally not clinically significant, its co-occurrence with alpha-thalassemia can lead to hemolytic anemia. In our patient, clinic and chemical parameters were predominantly within normal ranges, except for mild microcytosis. The potential interaction between MSUD and Hb Hasharon with concurrent alpha thalassemia remains unknown. Continued patient monitoring will enable us to evaluate whether these conditions may influence each other’s clinical and biochemical profiles.

Critical appraisal of the utility of 13 discriminant formulas for distinguishing beta thalassemia trait from iron deficiency in patients with microcytic anemia and the introduction of a new formula in a USA population

Abstract Iron deficiency anemia (IDA) and beta thalassemia trait (ß-TT) are two frequent causes of microcytic anemia that often pose a diagnostic dilemma with implications for management. Many discriminant formulas have been proposed for distinguishing these two conditions. However, there is a need for independent verifications of these formulas to determine their applicability to other populations, particularly more diverse populations, as seen in the United States. To date, no study has been performed in the United States to evaluate the utility of these formulas in distinguishing both conditions. The study objective was to evaluate the utility and predictive values of 13 discriminant indices and formulas for distinguishing ß-TT from IDA in a US population. We investigated 13 formulas comprising only hematologic parameters available on all analyzers. The investigational population consisted of 238 patients with microcytic anemia; 165 with a hemoglobin electrophoresis diagnosis of ß-TT and 73 diagnosed with IDA by clinician review or iron studies. The study population comprised 55% black or African American, 35% White, 5% Asian, 1.2% Native American, and 2.5% unidentified. Receiver operating characteristic curves were employed to evaluate the diagnostic performances of the formulas. All investigated formulas had poor sensitivities but high specificities. The three best-performing indices or formulas from those previously proposed for distinguishing ß-TT from IDA were the RBC (sensitivity 62.2%, specificity 87.1%), Green and King (MCV2×RDW/100 hemoglobin, Hb) with a sensitivity of 65.4% and specificity of 82.6%, and Wongprachum et al. (MCV×RDW/RBC) – 10 Hb) with a sensitivity of 63.6% and specificity of 82.6%. Areas under the curve (AUCs) were 0.68 for the RBC and, 0.67 for both Green and King and Wongprachum formulas. The Youden indices were 0.49, 0.48, and 0.46, respectively. The Mentzer index had a sensitivity of 63.4%, specificity of 81.7% and Youden index of 0.45. We introduced a new formula comprising the sum of three of the most readily obtained red cell parameters (RBC + Hb + MCV). It had a Youden index of 0.95, sensitivity of 96.8, specificity of 98.0, and AUC of 0.97, significantly outperforming other formulas in our study population (p=0.00). This is the first study in the USA evaluating the utility of multiple indices for distinguishing ß-TT from iron deficiency anemia. The best performing formulas in other studies did not perform well in our population. This necessitated an introduction of a new formula that demonstrates excellent potential to address the unique diversity of the US population.

Analysis of five Chinese individuals with rare thalassemia mutation HBB: c.93-21G＞A

To explore the hematological phenotype and genotypic characteristics of five Chinese individuals with a rare thalassemia mutation HBB: c.93-21G＞A. A retrospective study was carried out on five individuals identified by the People's Hospital of Yangjiang and Guangzhou Hybribio Co., Ltd. from May 2018 to September 2022. Routine blood test and hemoglobin electrophoresis were performed, and the genotypes of five subjects were determined by using PCR combined with reverse dot blotting (RDB), nested PCR, Gap-PCR and Sanger sequencing. This study was approved by the People's Hospital of Yangjiang (Ethics No. 20240001). Among the five individuals, hematological data of one was unavailable, and the remaining four had presented with microcytosis and hypochromia. The results of hemoglobin electrophoresis indicated that all of them had a HbA2 level of ≥4.7%. Genetic analysis showed that one case had harbored compound heterozygous mutations of αααanti3.7 triplet and HBB: c.93-21G＞A, one had compound heterozygous mutations of -α3.7 and HBB: c.93-21G＞A, whilst the remaining three were heterozygous for the HBB: c.93-21G＞A mutation. The hematological phenotype of β-thalassemia carriers (HBB: c.93-21G＞A) is similar to that of other β+ thalassemia heterozygotes with mild β-thalassemia characteristics.

5180 Atypical Presentation of Type 2 Diabetes Mellitus in a 72Year Old Caucasian Male with Hemoglobin J-Baltimore Variant: A Case Report

Abstract Disclosure: C. Muojieje: None. M. Luzuriaga: None. Objective: This case report discusses the unusual manifestation of Type 2 Diabetes Mellitus (T2DM) in a 72-year-old Caucasian male possessing a rare Hemoglobin variant, Hemoglobin J-Baltimore. It emphasizes the importance of recognizing how hemoglobin variants can impact HbA1c measurements. Alternative markers, such as fructosamine and HbA1c measurement using turbidimetric inhibition immunoassay (TINIA), are discussed as potential tools for a more precise assessment of glycemic control. Furthermore, it accentuates the effectiveness of tailored treatment strategies in such cases. Methods: A 72-year-old Caucasian male with a history of T2DM was referred to an endocrinology clinic due to substantial discordance between the blood glucose (BG) values when self-monitoring and HbA1c. The patient was diagnosed with T2DM a decade ago due to fasting hyperglycemia. His HbA1c levels had remained within normal range. He exhibited signs of diabetic nephropathy with moderately increased albuminuria. He was never prescribed an oral hypoglycemic agent. He reported polyuria, weight loss, and fatigue, prompting him to monitor his BG at home twice daily, revealing readings &amp;gt; 200 mg/dl. HbA1c measurement using high-performance liquid chromatography (HPLC) was 4.8%. His fasting plasma glucose was 190 mg/dl, and fructosamine levels were 292 umol/L (205 - 285 umol/L). An HbA1c level via TINIA was 6.4%. Hemoglobin electrophoresis unveiled the presence of Hemoglobin J-Baltimore. We started metformin, resulting in an improvement in HbA1c from 6.4% to 5.8%. Fructosamine levels improved from 292 umol/L to 210 umol/L. Fasting blood glucose remained &amp;gt; 150 mg/dl. Dulaglutide was introduced. Follow-up analysis showed an improvement in FBS to &amp;lt; 120 mg/dl. HbA1c remained unchanged at 5.9%. Conclusion: The significance of hemoglobin variants, exemplified by Hemoglobin J-Baltimore, cannot be overstated in the context of patients with T2DM, especially within populations where these variants are uncommon. This case underscores the need for a nuanced approach to glycemic control assessment in such individuals. The utilization of alternative markers, such as HbA1c values obtained through TINIA, emerges as a valuable strategy. The role of continuous glucose monitoring (CGM) is crucial, providing real-time and comprehensive data, which enhances the quality of care and contributes to more tailored and effective treatment strategies. Presentation: 6/1/2024

Reticulocyte haemoglobin content in the differential diagnosis of iron deficiency anaemia and thalassemia traits in pregnancy

Background: Iron deficiency anaemia (IDA) and thalassemia traits are the common conditions of microcytic hypochromic anaemia in pregnant women. However, the laboratory tests to differentiate them are expensive. The reticulocyte haemoglobin (Ret-Hb) test is relatively cheap. This study aimed to assess whether Ret-Hb can differentiate IDA from thalassemia traits in pregnant patients. Method: This cross-sectional study was conducted in the Bangabandhu Sheikh Mujib Medical University (BSMMU) from March 2023 to February 2024. We recruited pregnant women aged 18 to 40 through antenatal visits in the Obstetrics and Gynecology Department. Microcytic hypochromic anaemia was diagnosed by complete blood counts, IDA by iron profile and thalassemia traits by haemoglobin electrophoresis. Ret-Hb was measured using the flow cytometric method. Ninety pregnant women—30 each with IDA, thalassemia traits and healthy individuals—were enrolled. Result: The mean age was 27 years. The IDA patients had significantly (P&lt;0.001) lower levels of Ret-Hb (mean 18.1, standard deviation 3.2 pg) compared to thalassemia traits (20.8, 2.2 pg) and healthy pregnant women (29.2, 1.9 pg). Using a Ret-Hb cut-off point of 19 pg, the test had 86.7% sensitivity and 53.3% specificity to differentiate thalassemia traits from IDA. Conclusion: Ret-Hb could be considered a diagnostic test to differentiate thalassemia traits from IDA in clinical settings before expensive confirmatory tests are performed.

Design and Construction of a Low-Cost Hemoglobin Electrophoresis (Genotype) Machine for the Diagnosis of Inherited Genotype Disorder

Design and Construction of a Low-Cost Hemoglobin Electrophoresis (Genotype) Machine for the Diagnosis of Inherited Genotype Disorder

Pachychoroid neovascular membrane in a patient with sickle cell disease trait.

To describe a rare presentation of pachychoroid neovascular membrane in a patient with sickle cell trait and the accuracy of ruling out hemoglobinopathies in the presentation of pachychoroid spectrum. The patient was subjected to physical examinations, multimodal images (fluorescein angiography, optical coherence tomography), hemoglobin electrophoresis, and peripheral blood smear, documenting sickle cell trait. The management included laser treatment to target non-perfusion areas, along with a single dose of anti-VEGF. A 45-year-old male patient with diagnosis of pachychoroid neovascularization treated for 6 years with multiple anti VEGF injections in the left eye. A detailed clinical evaluation included hypochromic conjunctiva, peripheral vascular occlusion with non-perfusion areas led us to suspect sickle cell disease retinopathy. The images of fluorescein angiography showed peripheral arteriovenous anastomosis with non-perfusion areas; the optical coherence tomography revealed a thinner neuroepithelium with a thicker choroid; also, hemoglobin electrophoresis and peripheral blood smear documenting sickle cell trait. The chosen management was photocoagulation of the peripheral retina on the non-perfusion areas and anti VEGF without neovascular activity recurrence in the follow up period. Although sickle cell trait is considered a mild form of this pathology without serious retinal manifestations, it has to be noted that in the context of pachychoroid spectrum diseases is a trigger that could perpetuate retinal ischemia and neovascular activity.

A Rare Case of Tentorial Sinus Thrombosis in a Patient with Sickle Cell Disease

Background: The reported incidence of venous thromboembolism in sickle cell disease patients is approximately 12% before the age of 40, accompanied by an additional 5-10% incidence of cerebral venous sinus thrombosis. Tentorial sinuses are venous structures in the posterior cranial fossa, draining the occipital and temporal lobes and the superior part of the cerebellum. Here, we describe a rare case of lateral tentorial sinus thrombosis in a patient with sickle cell disease. Methods: Case report and review of the available literature Results: A 26-year-old woman with sickle cell disease presented with a 2-day history of headache, nausea, and vomiting. Neurological exam was normal. CT brain revealed hyperdensity in the right occipital region and subtle area of hypodensity in the right medial occipital lobe. MRI/MRV brain showed right lateral tentorial sinus and occipitobasal vein thrombosis in addition to right medial occipital lobe venous infarct. The patient was started on therapeutic heparin initially, then transitioned to apixaban. Hemoglobin electrophoresis revealed a HbS fraction of 80.6% and HbF 16.6%. The patient received an exchange transfusion and was discharged home in stable condition. Conclusions: In patients with symptoms concerning for cerebral venous thrombosis, attention is usually directed to the traditional dural venous sinuses and cortical veins, while other venous structures can be overlooked. Although, in this particular case, it was clear on imaging, tentorial sinus thrombosis can easily be missed if not associated with brain edema or venous infarct.

Prevalence and Regional Distribution of Beta-Hemoglobin Variants in Saudi Arabia: Insights from the National Premarital Screening Program”

BackgroundHemoglobinopathies are among the most prevalent inherited disorders globally, with carrier prevalence varying significantly across regions. In Saudi Arabia, high rates of consanguineous marriages amplify the risk of these disorders.AimThis study aims to assess the burden of hemoglobinopathies by evaluating the prevalence and regional distribution of beta-hemoglobin variants, including rare variants, among couples participating in the national premarital screening program.MethodsData were collected from the premarital genetic screening program and entered into the SEHA platform, covering the 13 administrative regions of Saudi Arabia. Blood samples underwent various screening tests for infectious and genetic diseases. Hemoglobin electrophoresis samples were analyzed using capillary electrophoresis, High-Performance Liquid Chromatography (HPLC), or a combination of both methods.ResultsFrom 2011 to 2018, 1,871,184 individuals were included in the study, with 49.8% male and 50.2% female. The average age was 30.2 years. Hemoglobin S (HbS) was identified in 88,431 individuals (4.7% of the tested population and 78.5% of abnormal screening results), primarily as a sickle cell trait. β-thalassemia was the second most common disorder, identified in 22,420 individuals (1.2% of the population and 19.9% of hemoglobin disorders). HbC and HbD were each detected in 0.04% of cases, while HbO-Arab was identified in 0.007% and HbG in 0.006%. Hemoglobin E and hemoglobin Lepore were found to be extremely rare.ConclusionThe study demonstrates regional variation in the prevalence of hemoglobin genetic variants in Saudi Arabia. To effectively mitigate this risk, it is imperative to strengthen public education and awareness, particularly focusing on genetic screening and counseling.

Successful Recanalization by Mechanical Thrombectomy in a Child with Arterial Thrombotic Stroke Involving Posterior Circulation: A Case Report with Review of the Literature

Background: Mechanical thrombectomy (MT) for arterial ischemic stroke, although established in adults, is not endorsed routinely for children. The procedure is even rare in children with stroke involving posterior circulation. Here we describe, a child with ischemic stroke due to thrombotic occlusion in the posterior circulation, which was successfully treated with MT. Clinical Description: A 12-year-old boy presented with sudden-onset vertigo, imbalance, slurring of speech, inability to stand, associated with headache and vomiting for 8 hours, without any associated fever, trauma, or seizures. On initial examination, his National Institute of Health Stroke Scale (NIHSS) score was 8. Other systems were within normal limits and there was no cutaneous rash. Management and Outcome: Investigations revealed a normal complete hemogram, lipid profile, serum homocysteine, fibrinogen, and D-dimer levels along with a normal hemoglobin electrophoresis profile. The electrocardiography, two-dimensional echocardiography were normal and even antinuclear antibodies, antiphospholipid antibodies were negative. Magnetic resonance imaging (MRI) of the brain demonstrated multiple acute infarcts in bilateral cerebellar hemispheres, pons, and right anterior thalamus. Noncontrast MR angiography (MRA) of the head and digital subtraction angiography showed distal basilar artery cutoff and right vertebral artery dominance. As the NIHSS score worsened to 10, a MT with solitaire was done (after 12 hours of onset of symptoms), and reperfusion was achieved in two passes. The child showed remarkable improvement in NIHSS score to 2 by 5 days. At discharge, the child had residual mild ataxia. Despite investigations, the cause of thrombosis remained unknown. Conclusion: Our case highlights that in case of significant large arterial occlusion with rapid worsening of symptoms, MT may be considered, even if it involves posterior circulation, and the child presents beyond the usual window of 4–6 hours.

Diagnostic accuracy of mean corpuscular volume in detecting coexisting iron deficiency in patients of sickle cell disorders: A hospital-based study.

Co-existing iron deficiency in patients of sickle cell disease (SCD) and trait may worsen anemia, and adversely affect neuro-cognitive development and growth. Determining a cut-off below which Mean corpuscular Volume (MCV) can predict iron deficiency in SCD patients can preclude use of more expensive test serum ferritin. This study was conducted to determine the diagnostic accuracy of low MCV in detecting iron deficiency compared to serum ferritin levels in patients with SCD. 60 consecutive patients with SS or AS pattern on hemoglobin electrophoresis were enrolled. The index test (MCV) and the reference standard test (serum ferritin) were performed in a blind and independent manner. The measures of diagnostic accuracy were calculated and the precision of the point estimates were expressed by 95% confidence intervals. As MCV is a continuous variable, we also used multi-level likelihood ratios to compute diagnostic accuracy of MCV at several cut-points. The sensitivity of low MCV in detecting iron deficiency was 40.0% (95% CI-20.0-63.6), the specificity was 78.4% (95% CI-61.3-89.6) using serum ferritin as a reference standard. The sensitivity and specificity of predicting coexisting iron deficiency at this point was 60.9% (CI-38.6-80.3%) and 75.7% (CI-58.8-88.2%) respectively. The low sensitivity (40%) of microcytosis in detecting iron deficiency indicates that many cases will be missed if MCV alone is used to detect co-existing iron deficiency anemia in SCD patients. No single test is good enough to detect co-existing iron deficiency and a combination of tests might be useful.

Hemoglobin Electrophoresis versus Kleihauer-Betke to Determine Bone Marrow Suppression in Fetuses Undergoing Intrauterine Transfusion.

Mainstay therapy for fetuses affected by maternal red cell alloimmunization is serial intrauterine transfusion (IUT). Testing to determine when fetal red cells have been replaced with donor cells historically involves the use of the Kleihauer-Betke (KB) test. Hemoglobin (Hgb) electrophoresis testing may be more rapid with a reduced cost of analysis. We aimed to determine the correlation between fetal Hgb electrophoresis versus the traditional KB test. This is a retrospective analysis of all alloimmunized singleton pregnancies undergoing IUT between January 1, 2021, and July 1, 2023. Maternal and fetal characteristics were collected along with the indication for IUT. A final fetal blood sample was obtained at the conclusion of each transfusion and sent for KB testing and Hgb electrophoresis. The primary outcome was the assessment of these parameters in their ability to predict the replacement of the fetal circulating red cell population with donor cells. Linear regression analysis and repeated measures analysis of variance were performed, and p-values less than 0.05 were considered significant. A total of 56 IUTs were performed in 16 patients. There were 39 (69.6%) final KB test values collected and compared with 30 (53.6%) final Hgb electrophoresis values. Hgb electrophoresis when compared with the KB test demonstrated a significant correlation (R 2 = 0.93; 95% confidence interval, 0.61-0.76; p < 0.001). This same finding held true when examining the correlation at each individual IUT as well. The final KB test and Hgb electrophoresis values significantly decreased with each transfusion (p = 0.003). A predominance of adult donor blood was noted by the third transfusion for both laboratory indices. Fetal Hgb electrophoresis obtained at the time of IUT demonstrates a significant correlation with the traditional KB test. · Fetal Hgb electrophoresis following IUT is underexplored. · Hgb electrophoresis is an automated evaluation. · The traditional KB test is a manual evaluation. · These two tests demonstrate significant correlation.

Serum zinc and magnesium levels in steady state sickle cell children with or without anaemia attending Jos University Teaching Hospital, North-Central Nigeria

Sickle cell anaemia (SCA) is a public health problem. Zinc and Magnesium are essential metal antioxidants important in protection of erythrocytes membrane from oxidative stress; a trigger of vaso- occlusive crisis. This study aims to evaluate the serum levels of zinc and magnesium in steady state sickle cell children with or without anaemia. Comparative cross-sectional study. Forty children aged 1-15 years with sickle cell disease (SCD) in steady state with or without aneamia and 40 age- and- sex matched HbAA counterparts (non-SCD) were consecutively recruited for the study. Each forty SCD and non-SCD children were included in the study. Haemoglobin variants were analysed using haemoglobin electrophoresis. Packed cell volume was determined using haematocrit centrifuge and reader. Serum zinc and magnesium were assayed colorimetrically. Data were analysed using SPSS version 26. Student unpaired t- test was employed to assess the significance of the differences. p-value &amp;#60;0.05 was considered significant. Serum magnesium unlike zinc was significantly (p&amp;#60;0.05) higher in non-SCD group (2.18mg/dl) compared to the SCD group (2.09mg/dl). There was no significant (p&amp;#62;0.05) effect of SCD and anaemia on serum zinc. This study has shown that serum Mg was significantly lower in children with SCD compared to non-SCD counterpart.

An incidental finding of a hemoglobin E variant in a diabetic patient with an abnormal glycated hemoglobin level: a case report

BackgroundGlycated hemoglobin is a well-known marker for evaluating long-term glycemic control. However, the accuracy of glycated hemoglobin measurement can be affected by the presence of hemoglobin variants, which makes the determination and interpretation of glycated hemoglobin values in terms of glycemic control not only difficult but also misleading. Here we present the first ever case of a patient with type 2 diabetes with hemoglobin E from Nepal, diagnosed incidentally because of spurious glycated hemoglobin levels.Case presentationA 45-year-old Hindu Mongolian female with a history of type 2 diabetes for around 9 years but not very compliant with follow-ups was referred to our facility for plasma fasting and postprandial blood glucose levels and glycated hemoglobin. Fasting and postprandial blood sugars were found to be high. A consistent very low glycated hemoglobin by two different high-performance liquid chromatography (HPLC) methods compelled us to call the patient for a detailed clinical history and for the records of investigations done in the past. The patient has been a known case of type 2 diabetes for around 9 years and presented irregularly for follow-up visits. Around 4 years ago, she presented to a healthcare facility with fatigue, severe headaches, pain in the abdomen, discomfort, and dizziness for a couple of months, where she was shown to have high blood glucose. She was referred to a tertiary-level hospital in Kathmandu, where she was prescribed metformin 500 mg once daily (OD). Due to her abnormal hemoglobin A1c reports, she was then sent to the National Public Health Laboratory for repeat investigations. Her blood and urine investigations were sent. Complete blood count findings revealed high red blood cell and white blood cell counts, a low mean corpuscular volume, and a high red cell distribution width-coefficient of variation. Other parameters, including serum electrolytes, renal function tests, liver function tests, and urine routine examinations, were within normal limits. A peripheral blood smear revealed microcytic hypochromic red cells with some target cells. Hemoglobin electrophoresis showed a very high percentage of hemoglobin E, a very low percentage of hemoglobin A2, and normal proportions of hemoglobin A and hemoglobin F. A diagnosis of homozygous hemoglobin E was made, and family screening was advised.ConclusionsClinicians should be aware of the limitations of glycated hemoglobin estimation by ion exchange high-performance liquid chromatography in patients with hemoglobin E and other hemoglobin variants. If the clinical impression and glycated hemoglobin test results do not match, glycated hemoglobin values should be determined with a second method based on a different principle, and glycemic status should be confirmed through alternative investigations, preferably those that are not influenced by the presence of hemoglobin variants (for example, boronate affinity chromatography, fructosamine test, glycated albumin test, the oral glucose tolerance test, continuous glucose monitoring, etc.). Consistent or even doubtful results should also raise the suspicion of a hemoglobin variant, which should be confirmed through further evaluation and investigations.

Analysis of rare mutations associated with Thalassemia and their hematological characteristics in Chenzhou region of Hunan Province

To explore the distribution and hematological characteristics of rare thalassemia-associated mutations in Chenzhou region of Hunan Province with an aim to provide a basis for genetic counseling and effective prevention. A total of 37 370 individuals enrolled from January 2015 to December 2021 were screened by routine blood test and hemoglobin electrophoresis. The genotypes were determined with high-throughput sequencing. A total of 8 455 thalassemia mutations (including 185 rare ones) were detected, which had involved 27 mutational types. Rare type α-Thalassemia --THAI and CD31 (AGG>AAG) have the typical microcytic hypochromic hematological features, whilst SEA-HPFH, CD14 (CTG>-TG), CD37 (TGG>TAG), -90(C>T), Codon 15 (G>A), IVS-I-128 (T>G), CD86 (GCC>GC-) and Chinese Gγ+(Aγδβ)0 had typical microcytic hypochromic and β-thalassemia-associated hematological features of elevated HbA2 or HbF. In addition, the -50（G>A）heterozygotes of β-thalassemia had normal or slightly decreased MCV and MCH without an increase in HbA2. Various forms of thalassemia-associated mutations have been identified in the Chenzhou region of Hunan Province. Above finding has facilitated development of preventive and control strategies for thalassemia as well as birth health programs.

Haemoglobin Variants, ABO/Rh Blood Groups and their Associa-tions with Levels of Malaria Parasitaemia amongst Infected Subjects at Rivers State University, Port Harcourt, Nigeria

The aim of the study was to associate haemoglobin variants, ABO/Rh blood groups with levels of malaria parasitaemia amongst infected subjects at Rivers State University, Port Harcourt, Nigeria. ABO/Rh D blood groups were analyzed using monoclonal antisera, and haemoglobin electrophoresis was analyzed using the alkaline cellulose acetate electrophoresis method, while malaria parasites were identified by microscopic examination of stained blood films. Graph Pad Prism version 8.0 was used to statistically analyze odd ratios, confidence intervals, likelihood ratios and relative risks. All 147 subjects (87 females, 60 males) were positive for malaria (Plasmodium falciparum). For 3+ falciparum malaria, the order of infection for haemoglobin genotype was AA &gt; AS/SS; ABO blood group was B &gt; A &gt; O &gt; AB; Rh blood group was Rh D+ &gt; Rh D-; gender was females &gt; males at p &gt; 0.05. At p &gt; 0.05, for 2+ falciparum malaria: haemoglobin genotype was SS &gt;AA &gt; AS; ABO blood group was B &gt; A &gt; O &gt; AB; Rh blood group was Rh D- &gt; Rh D+; and gender was females &gt; Males. At p &gt; 0.05, for 1+ falciparum malaria infection: haemoglobin genotype was AS &gt;AA &gt; SS; ABO blood group was AB &gt; O &gt; A &gt; B; Rh blood group was Rh D+ &gt; Rh D-; and gender was males &gt; females. Conclusively, 3+ Plasmodium falciparum malaria infection is common amongst individuals with: AA haemoglobin genotype, blood group B, Rh D+, and females; 2+ P. falciparum infection is common amongst individuals with: haemoglobin genotype AA, blood group B, Rh D-, and females; while 1+ P. falciparum malaria infection is common amongst individuals with: AS haemogobin genotype, blood group AB, Rh D+, and amongst males than females.

Manual Exchange Transfusion Role in the Management of a Pregnancy Compromised by Sickle Cell Disease in a Tertiary Hospital in Burkina Faso: A Case Report

Sickle cell disease in pregnant women can lead to potentially serious complications for both the mother and fetus. Its management remains a major public health challenge, particularly in resource-limited regions. Here, we report the management of a case at the Regional University Hospital (RUH) of Ouahigouya. A 30-year-old patient with 2 pregnancies, 1 miscarriage following a vaso-occlusive crisis. The current pregnancy was monitored at a peripheral health center until 25 weeks of gestation when the patient experienced a vaso-occlusive crisis, prompting her evacuation to the CHUR-OHG. Electrophoresis of hemoglobin revealed 53% hemoglobin S fraction and 47% hemoglobin C fraction, with mild anemia at 9.6g/dl. After symptomatic treatment and hydration, the first crisis improved; however, due to the succession of crises, manual exchange transfusion was discussed and indicated by the care team. Initially, this exchange was not performed due to a lack of blood products. Thanks to the opening of the new transfusion center in the region, the required blood bags were available for the procedure. Manual exchange transfusion was performed, using AA red blood cell concentrate. The immediate aftermath of the exchange transfusion was straightforward, and the patient was able to carry her pregnancy to term without further complications. Delivery was by caesarean section, at 38 weeks of gestation. The newborn, a female, had Apgar scores of 9/10 and 10/10, with a weight of 2600 grams. Postoperative recovery was uneventful with no vaso-occlusive crises.