Beta-thalassemia Trait Research Articles

Types of Inherited Hemoglobin Disorders Among the Patients Attending Hematology Outdoor of a Tertiary Care Hospital in Bangladesh

Background: Inherited Haemoglobin (Hb) disorders are the most frequent genetic hereditary disorders with an increasing global health burden, especially in low- and middle-income countries. This disorder is mostly caused by a point mutation on a globin gene resulting mostly in single amino acid substitutions and consequently defective globin chain production or reduced production of normal haemoglobin. Despite the limited study of this country regarding this issue, the number of individuals suffering from inherited Hb disorders is not negligible. Thus, the study was designed to evaluate the types of inherited haemoglobin disorders among the patients attending the haematology outdoor of Dhaka Medical College Hospital (DMCH). Methods: This hospital-based cross-sectional study was conducted at the Department of Haematology in DMCH, for a period of 6 months (June 2022 to November 2022. People attending the Haematology outpatient department and diagnosed with a case of inherited Hb disorder were approached for inclusion. Written informed consent was taken from each subject. Ethical issues were ensured properly. For the study, a total of 100 patients were interviewed for less than 30 minutes of duration in each case. Relevant investigations such as, Hemoglobin (Hb), Red Cell Count (RCC), MCV, MCH, MCHC, RDW, Reticulocyte, Serum ferritin were done in the Haematology lab of DMCH, and data were collected in a semi-structured questionnaire. Collected Data were analyzed by SPSS 21. Results: Out of 100 inherited Hb disorder subjects, the majority (60 or 60%) were from the age group of 14 to 24 years. The mean age of patients was 38.78 ± 6.09 with range 15-51 years. The male-female ratio was 1:1. The majority (58%) came from rural areas and 42% came from urban areas. Mean value of Hb was 10.54; subsequently, MCV (63.25), MCH (22.18), S ferritin (140.43). The majority of patients had their onset of clinical presentation of illness for 5 years. Among total subjects, two-thirds of the patients (66 or 66%) had Hb E Disease followed by 14% Beta thalassaemia trait, 14% Hb E trait, and 6% b thalassaemia major. No association was noted between the type of thalassaemia with age & sex of the subjects. Conclusion: Irrespective of age and sex variations, Hb E disease is the most frequent inherited haemoglobin disorder among the patient attending the haematology outdoor of a tertiary care hospital. J MEDICINE 2023; 24(2): 96-105

The beta thalassaemia trait in Jamaica.

The objective of this study was to review the prevalence and features of the beta thalassaemia trait in Jamaican populations. Screening of 221,306 newborns over the last 46 years has given an indication of the distribution and prevalence of beta thalassaemia genes, and screening of 16,612 senior school students in Manchester parish, central Jamaica, has provided their haematological features. The prevalence of the beta thalassaemia trait predicted from double heterozygotes was 0.8% of 100,000 babies in Kingston, 0.9% of 121,306 newborns in southwest Jamaica, and 0.9% of school students in Manchester. Mild beta+ thalassaemia variants (-88 C>T, -29 A>G, -90 C>T, polyA T>C) accounted for 75% of Kingston newborns, 76% of newborns in southwest Jamaica, and 89% of Manchester students. Severe beta+ thalassaemia variants were uncommon. Betao thalassaemia variants occurred in 43 patients and resulted from 11 different variants of which the IVSII-849 A>G accounted for 25 (58%) subjects. Red cell indices in IVSII-781 C>G did not differ significantly from HbAA, and this is probably a harmless polymorphism rather than a form of beta+ thalassaemia; the removal of 6 cases in school screening had a minimal effect on the frequency of the beta thalassaemia trait. Red cell indices in the beta+ and betao thalassaemia traits followed established patterns, although both were associated with increased HbF levels. The benign nature of beta+ thalassaemia genes in Jamaica means that cases of sickle cell-beta+ thalassaemia are likely to be overlooked, and important clinical questions such as the role of pneumococcal prophylaxis remain to be answered.

Differentiation of Beta Thalassemia Trait from Iron Deficiency Anemia by Hematological Indices

Differentiation of Beta Thalassemia Trait from Iron Deficiency Anemia by Hematological Indices

Thalassemia and Hemoglobinopathy Screening in Women Attending Antenatal Clinic at a Tertiary Care Center in Uttarakhand, India: A Re-look at the Laboratory Parameters Mandating High-Performance Liquid Chromatography Workup.

Thalassemia and hemoglobinopathies are the most common inherited hematological disorders. Of these, β thalassemia is the commonest disorder reported in India, followed by certain hemoglobinopathies encountered in different regions of the country. The data pertaining to the incidence of these disorders in the Uttarakhand region of India are sparse. To ascertain the prevalence and spectrum of thalassemia/hemoglobinopathies amongst antenatal women in Uttarakhand. The study also aimed to analyze the ability of red cell indices in differentiating beta thalassemia trait (BTT) from mild iron deficiency anemia (IDA). A total of 460 pregnant women in the first trimester of pregnancy were screened by cation exchange high-performance liquid chromatography. Retention time and proportions of normal/abnormal hemoglobin peaks were documented in all cases. Hemoglobin A2 (HbA2) values of ≥4% were taken as a cut-off for diagnosing BTT. Blood samples were also collected for complete blood counts, reticulocyte counts, and serum ferritin. The ability of the various discriminatory indices to differentiate between IDA and BTT was also assessed. The prevalence of BTT and hemoglobin D-Punjab trait amongst pregnant women was found to be 2.6% and 0.2%, respectively. RBC count, mean corpuscular volume (MCV), and mean corpuscular hemoglobin (MCH) were found to be moderately strong predictors of BTT, with an area under the curve of 0.860, 0.857, and 0.842, respectively, which were comparable to the discriminatory indices found to be most useful in this study. In view of the 2.6% prevalence of BTT in antenatal women in this region of Uttarakhand, a routine screening will be helpful in detecting carriers early in the antenatal period. Careful interpretation of red cell indices is crucial to the distinction between BTT and IDA. Discriminatory indices are reasonably accurate in differentiating BTT from mild iron deficiency, but for practical purposes, MCV and MCH provide equivalent information to identify cases that require further workup.

Comparison of HbA2 Using High Performance Liquid Chromatography Versus Haemoglobin Capillary Zone Electrophoresis.

Thalassemia is among the most common hereditary disorders in the world. Approximately 5% of the world's population are carriers of hemoglobinopathies, and 2.9% are carriers of beta thalassemia. Haemoglobin A2 (HbA2) constitutes less than 3% of the total hemoglobin (Hb) in adults, and the determination of Hb A2 levels is important to diagnose the beta thalassemia trait(BTT). In some cases, the level of HbA2 is not typically elevated, and some difficulties may arise in making the diagnosis. Cation exchange high-performance liquid chromatography (HPLC) and HbCZE (haemoglobin capillary zone electrophoresis) are considered acceptable methods to diagnose BTT, but these vary in their accuracy and cut-offs. In this study, we attempted to compare HbA2 values using two methods, HPLC and HbCZE, in 536 whole blood samples sent by physician-ordered hemoglobinopathy screening over two years. This included antenatal women, patients with anemia not responding to iron, and cases of familial screening where either a child or a sibling had been diagnosed with hemoglobinopathy or thalassemia. The performance characteristics of both machines were compared for the detection of the 5 most common hemoglobin variants: Hb A, HbF, HbS, Hb C, and HbE. On comparing the HbA2 values, the HPLC showed higher values for HbA2 as compared to HbCZE, while the HbF and HbS measurement agreement was good between both methods. Normal ranges and mean normal values of HbA2 differ between different methods and different manufacturers; hence, each institute using these machines should validate its cutoffs.

CLINICOETIOLOGICAL STUDY OF HEMOLYTIC ANAEMIA IN CHILDREN PRESENTING TO A TERTIARY CARE HOSPITAL OFKASHMIR

Anemia is said to be present when the hemoglobin levels are more than two standard deviations below the mean for the childs age and sex. Hemolytic anemias arise when red blood cells have decreased survival either due to an intrinsic abnormality of the cell or due to extrinsic factors or both. Hemolytic anemias constitute important cause of mortality and morbidity in developing countries. These group of anemias have various clinical presentations starting from their age of onset of symptoms, failure to thrive, anemia, jaundice, splenomegaly, cholelithiasis, cardiomegaly, congestive cardiac failure, severe life-threatening infections and chronic disabilities leading to distress in the families. The present study attempts to reveal the clinical and etiological profile of patients with different types of hemolytic anemia admitted in a pediatric tertiary care hospital of Kashmir. Review of literature shows only few epidemiological studies particularly in this part of the country, and no such study in our state though the disease is fairly prevalent. We undertook this study with this idea. Aims and Objectives: The aims and objectives of this study was to determine clinical and etiological profile of hemolytic anemia in children aged 1month to 18 years admitted in tertiary care hospital of Kashmir. Materiaals & Methods: This prospective observational study was carried out in a pediatric tertiary care hospital in Kashmir over a period of two years. Prior to initiation of study, ethical clearance was obtained. All patients admitted in the indoor of department of pediatrics between age group of 1 month to 18 years with evidence of hemolysis were included in the study. 50 cases were included in the study after obtaining written informed consent from parent or guardian. A detailed history, examination and required investigations were collected. Data was entered and assessed in MS Excel. Results: The study was based on 50 patients, almost equal males and females, 1month to 18 years of age. The most common hemolytic anemia was beta thalassemia major (n=17, 34%), followed by autoimmune hemolytic anemia(n=10,20%), hereditary spherocytosis (n=5,10%), thalassemia trait (8%), pyruvate kinase deficiency (8%) and glucose 6 phosphate dehydrogenase (8%), thalassemia intermedia (4%), sickle cell trait (2%), microangiopathic hemolytic anemia (2%), hereditary xerosis (2%) and hereditary stomatocytosis (2%). Highest number of the cases was less than 3 years old (56%). The most common clinical presentation was jaundice, which was present in all cases, followed by splenomegaly (60%), hepatomegaly (30%), hemolytic facies (26%). Splenomegaly was seen in all cases of thalassemia major, thalassemia intermedia, beta thalassemia trait, hereditary spherocytosis, 2 cases of pyruvate kinase deficiency and 3 cases of glucose 6 phosphate dehydrogenase deficiency. Spleen >5cm was seen in 10 patients. Massive splenomegaly with abdominal discomfort was seen in 3 cases. The mean hemoglobin was least in beta thalassemia major followed by beta thalassemia intermedia, Hereditary spherocytosis, autoimmune hemolytic anemia, glucose 6 phosphate dehydrogenase deficiency and the highest mean hemoglobin was seen in pyruvate kinase deficiency. Means for serum ferritin and serum bilirubin were calculated.

DIAGNOSTIC ACCURACY OF RDWI TO DIFFERENTIATE IRON DEFICIENCY ANEMIA AND THALASSEMIA TRAIT IN BORDERLINE HBA2

Background: Thalassemia is an inherited hemoglobin disorders in which there is reduction or absence of α or β chains due to mutations in α or β genes. Microcytic hypochromic anemia is hallmark of beta thalassemia trait and the patient is usually asymptomatic. It is important to differentiate it from iron deficiency anemia (IDA) which also shows similar peripheral blood picture. The diagnosis is based on quantification of HbA2 and serum ferritin. If the level of HbA2 is more than 3. 5%, then diagnosis of beta thalassemia trait is made. The problem arises with borderline HbA2 i. e 3.1% - 3.4%. There is also diagnostic difficulty when concomitant iron deficiency anemia is present.
 Objectives: To determine the diagnostic accuracy of RDWI in borderline HbA2 to distinguish the beta thalassemia trait from IDA and to diagnose beta thalassemia trait when genetic analysis is not easily available.
 Methods: It was a cross sectional validation study. A total of 90 patients were included in this study, having HbA2 between 3.1-3.4%. Tests for serum ferritin, serum iron and total iron binding capacity (TIBC) were done on all samples. RBC morphology, RBC count, mean cell volume (MCV), mean cell hemoglobin (MCH), mean cell hemoglobin concentration (MCHC) and RDW of all samples were noted. RDWI of all samples was calculated. Mutational analysis by ARMS- PCR was done for confirmation of β thalassemia trait.
 Results: Out of 90 samples with borderline HbA2, 30 cases were diagnosed as β thalassemia trait. Out of these, 15(50 %) had concomitant IDA along with beta thalassemia trait and 15 were non iron deficient beta thalassemia carriers. 43 samples were not iron deficient and were also negative for β thalassemia trait, whereas 17 samples had only IDA without beta thalassemia trait. The sensitivity of RDWI was 76.6% and specificity was 56.6% in borderline HbA2.
 Conclusion: RDWI is a good indicator to differentiate between IDA and beta thalassemia trait (sensitivity 76.6% specificity 56.6%). But in all cases of borderline HbA2 genetic analysis should be done to see the mutation and to confirm the diagnosis.

Molecular characterization and mutational analysis of beta-globin gene among Kodagu population of Karnataka, India

Introduction and Aim: Beta-thalassemia is a hereditary blood disorder caused by genotypic alterations in the HBB gene. Over 400 mutations have been identified, which are known to be responsible for this disease. In this study, we investigated the mutations for the globin gene prevalent among adult beta-thalassemia trait positive individuals and their distribution within the Kodagu community of Karnataka, India. Materials and Methods: This study included 100 individuals (81 Females and 19 males) in the age group of 18-28 years previously tested as carriers for beta-thalassemia trait. Blood collected from each individual was subjected to genomic DNA extraction and PCR amplification of a 610 bp fragment of the beta-globin gene. The PCR product was purified and sequenced. The gene sequences were subjected to mutation analyses and characterization using bioinformatics tools. Results: The study identified 13 known and 27 novel mutations for this study population. Among the known mutations observed 2 were of type synonymous (HBB:c.9T>C and HBB:c.18T>G), 5 missense (HBB:c.146T>G; HBB:c.149C>T; HBB:c.151A>T; HBB:c.203T>G; HBB:c.269G >A) and 6 intronic (HBB:c.92+2T >G; HBB:c.92+5G>C; HBB:c.315+16G>C; HBB:c.315+74T>G and HBB:c.315+81C>T). HBB:c.-6G>C at the 5'UTR region and IVS-II-16 G>C, an intronic variant, was observed to be the most common mutation showing highest frequency of 82.1%. Several novel mutation types were identified in Exon 2 (3 missense; 2 synonymous), Intron I and Intron II. Conclusion: This study is the first of its kind for the Kodagu population, which identified several previously known and novel mutations in the HBB gene within this population. Since, our study subjects were carriers of very mild or silent beta-thalassemia trait, the mutations observed particularly the novel mutations warrant further investigation for a better understanding and management of beta-thalassemia in this population.

"STUDY TO DETERMINE USEFULNESS OF RDWI IN DIAGNOSIS OF IRON DEFICIENCY ANAEMIA."

Introduction Iron deciency is the most common nutritional deciency in both developing and developeds countries. In era of rising cost consciousness, efcient diagnostic approaches, which can rule in or rule out diseases with sufcient accuracy so testing is minimized. RDWI has more specicity for IDAthan RDW. So it can rule out IDAbetter than RDW. RDWI appears to be a reliable and useful index for initial screening of microcytic hypochromic anemia and is better than RDW in differentiating iron deciency anemia and beta thalassemia trait. Material And Methods Total 400 patients were included who were suspected for anemia during OPD visit. We have calculated RDWI of all patients using automated hematology analyzer using blood collection in EDTA vacutainer. Serum ferritin levels were also estimated using automated biochemistry using ELISA as principle method Result: There was total 66 patients having <220 RDWI and 7 patients of these 66 patients were having <15 ng/ml serum ferritin. Sensitivity of RDWI to diagnose IDAwas as good as 92.78 % in this study. The specicity and positive predictive value were 19.47% and 26.94% respectively. Negative Predictive Value (NPV) of RDWI to diagnose IDAwas 89.39 %.were having S.ferritin <15 ng/ml.

EVALUATION OF MICROCYTIC HYPOCHROMIC ANEMIA BY ELECTROPHORESIS FOR HEMOGLOBINOPATHIES IN YOUNG POPULATION

Objectives: Hemoglobinopathies are serious genetic blood disorders requiring lifelong blood transfusions and treatment in its most severe and chronic form. If undiagnosed or untreated, these disorders ultimately lead to death. South Asia especially India, Pakistan, and Bangladesh has high populations of hemoglobinopathies. In India, there are an estimated 100,000 thalassemia majors patients and nearly 3.5 to 4 million carriers of this genetic disorder. Tribal populations in India have a range of 5–40% sickle cell anemia (SCA) sufferers. The aim of the study was to detect hemoglobinopathies by electrophoresis in microcytic hypochromic anemia in young population in the area covered by tertiary care center at Index Medical College and Hospital. Methods: A cross-sectional study was carried out in a hospital in rural area of Indore on young patients (10–30 years age group) who attended outpatient department from June 2018 to March 2020. Total 517 cases of moderate to severe anemia were included in the study. All cases were subjected to a series of hematological investigations, which include complete hemogram, peripheral blood smear, and some standard procedures. Sysmex XS800i fully automated Cell counter was used for complete blood count. It is the 5-part differential instrument. It reports on all the five subpopulations, namely, neutrophils, eosinophils, basophils, monocytes, and lymphocytes. A blood smear is a blood test used to look for abnormalities in blood cells. Results: In the study, out of 517 cases 34.4% cases were positive on Hb electrophoresis and 65.6% were negative. On electrophoresis, the number of sickle cell anemia cases was 34.3%, sickle cell trait – 20.8%, sickle beta-thalassemia – 29.8% and beta-thalassemia major – 29.8% was observed. In hemoglobinopathies, of the 73 females, 28.8% were having beta-thalassemia trait, 27.4% were having SCA 23.3% were having sickle beta-thalassemia, and 20.5% were having sickle cell trait. Of the 105 males, 30.5% were having beta-thalassemia trait, 9.5% were having sickle beta-thalassemia, 39.0% were having SCA, and 21.0% were having sickle cell trait. Conclusion: The ANMs, ASHA, and Anganwadis should be taught about the importance of screening of hemoglobinopathies. So that they can explain the purpose of screening to the female during pregnancy and to the families in the rural areas. At primary level, the CHCs and PHCs should be equipped with instruments for basic testing of hemoglobinopathies.

A New Artificial Intelligence Approach Using Extreme Learning Machine as the Potentially Effective Model to Predict and Analyze the Diagnosis of Anemia

The procedure to diagnose anemia is time-consuming and resource-intensive due to the existence of a multitude of symptoms that can be felt physically or seen visually. Anemia also has several forms, which can be distinguished based on several characteristics. It is possible to diagnose anemia through a quick, affordable, and easily accessible laboratory test known as the complete blood count (CBC), but the method cannot directly identify different kinds of anemia. Therefore, further tests are required to establish a gold standard for the type of anemia in a patient. These tests are uncommon in settings that offer healthcare on a smaller scale because they require expensive equipment. Moreover, it is also difficult to discern between beta thalassemia trait (BTT), iron deficiency anemia (IDA), hemoglobin E (HbE), and combination anemias despite the presence of multiple red blood cell (RBC) formulas and indices with differing optimal cutoff values. This is due to the existence of several varieties of anemia in individuals, making it difficult to distinguish between BTT, IDA, HbE, and combinations. Therefore, a more precise and automated prediction model is proposed to distinguish these four types to accelerate the identification process for doctors. Historical data were retrieved from the Laboratory of the Department of Clinical Pathology and Laboratory Medicine, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia for this purpose. Furthermore, the model was developed using the algorithm for the extreme learning machine (ELM). This was followed by the measurement of the performance using the confusion matrix and 190 data representing the four classes, and the results showed 99.21% accuracy, 98.44% sensitivity, 99.30% precision, and an F1 score of 98.84%.

The potential role of vitamin E in patients with glucose-6-phosphate dehydrogenase deficiency: A systematic review and meta-analysis.

As an antioxidant, vitamin E (VitE) may benefit the erythrocytes by protecting glutathione from oxidation by free radicals and peroxide-generating processes. We followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement guidelines when reporting this systematic review. We searched 6 electronic databases (PubMed, Scopus, Web of Science, and Cochrane Library) until May 8, 2022. We included all relevant studies. According to the study design, the Cochrane assessment tool (Risk of Bias 2), Risk Of Bias In Non-randomized Studies - of Interventions checklists, and National Institutes of Health tools were used to assess the risk of bias.Continuous data were pooled as a mean difference (MD) with a relative 95% confidence interval. The protocol was registered on PROSPERO (CRD42022333848). Six studies were included in the meta-analysis with a total of 181 patients. Compared with the control group, VitE significantly improved the hemoglobin level for chronic hemolysis (MD = 2.72 g/dL, P < .0001) and for acute hemolysis (MD = 1.18 g/dL, P < .0001). It also decreased the reticulocyte level for chronic hemolysis (MD = -1.39 P < .0001) and for acute hemolysis (MD = -1.42%, P < .0001). For before and after studies, the use of VitE significantly improved the level of packed cell volume (MD = 0.56%, P < .00001), red blood cell half-life (MD = 2.19 days, P < .0001), and decreased the reticulocytes level (MD = -1.41%, P < .00001). Among patients with glucose-6-phosphate dehydrogenase deficiency, VitE might provide benefits such as increasing the hemoglobin, packed cell volume levels, red blood cell half-life, and decreasing the reticulocyte level, so reducing hemolysis. Further high-quality, well-designed randomized controlled trials are recommended.

EVALUATION OF THE UTILITY OF HEMATOLOGICAL INDICES FOR DIFFERENTIAL DIAGNOSIS OF BETA THALASSEMIA TRAIT AND IRON DEFICIENCY ANEMIA: A META ANALYSIS

Background/Objectives: β-thalassemia trait (βTT) and iron deciency anemia (IDA) are most regularly reported microcytic anemia disorders. We aimed at evaluating the utility of various hematological indices in the differentiation of iron deciency anemia and beta-thalassemia trait. Methods: In this study, a total of 70 Patients aged between 3-52 years diagnosed with IDA (supported by iron studies) or βTT (supported by HPLC) were included. The Hemoglobin values ranged 7.5-11.6gm/dl. Hematological parameters like Hemoglobin, Mean Corpuscular Volume, Mean Corpuscular Hemoglobin, Red Blood Cell Distribution Width, Mean Corpuscular Hemoglobin Concentration and Red Blood Cell count which were measured by Horiba pentra XLR automated hematology analyzer for each case. 12 discrimination indices(DIs) namely Red blood distribution width index(RDWI),Red blood cell count, Mentzer index, Shine and Lal, England and Fraser(E&amp;FI), Srivastava, Green and King(G&amp;KI), Ricerca, Sirdah, and Ehsani indices; Mean density of hemoglobin/ litre of blood; Mean cell density of hemoglobin in all patients were calculated using above hematological parameters. We also calculated sensitivity, specicity, positive &amp; negative predictive value and yoden's index of each DIs to assess the diagnostic accuracy of DIs. RBC count, Mentzer Results: index and RDWI were the most sensitive and specic for both IDA and TT. All twelve DIs have variable sensitivity and specici Conclusion: ty. However, these hematological indices which are routinely performed offer rapid, reliable and cost effective method in distinguishing βTT and IDA.

The effect of different types of anemia on HbA1c levels in non-diabetics

BackgroundDiabetes mellitus is one of the most common diseases worldwide with significant morbidity and mortality. HbA1c remains one of the most important methods for diagnosis and monitoring of the disease. Since HbA1c is a reflection of the glucose attached to red blood cells, factors affecting hemoglobin and red blood cells’ half-life can influence HbA1c measurements.ObjectiveThis study aims to evaluate the effect of different types of anemia including iron deficiency anemia, sickle cell anemia, β -thalassemia trait, and megaloblastic anemia on HbA1c levels in a tertiary hospital over the past 6 years (2016–2022).MethodThis is a retrospective chart review study of 324 patients including those with one of the four types of anemia mentioned above and a control group. The control group were healthy adults with normal HbA1c and hemoglobin, who were not known to have diabetes or anemia. Patients with diabetes or prediabetes based on self-reporting or elevated fasting, random blood sugar, or 2 hours post-prandial blood glucose were excluded.ResultsThe mean HbA1c levels were significantly higher in sickle cell anemia at 5.83% (95% CI = 5.39–6.28) and in iron deficiency anemia at 5.75% (95% CI = 5.68–5.82) when compared to the control group at 5.32% (95% CI = 5.22–5.41). However, the mean HbA1c levels in megaloblastic anemia were 5.38% (95% CI = 5.26–5.5) and 5.45% (95% CI = 5.21–5.69) in beta thalassemia trait, which were not significantly different when compared to the control group. HbA1c significantly decreased from 5.75 to 5.44% after treatment in the iron-deficient group with a p-value of < 0.001. Moreover, lower hemoglobin and higher red cell distribution width correlated with higher HbA1c levels in patients with sickle cell anemia.ConclusionThis study found a significant increase in HbA1c levels in iron deficiency anemia and sickle cell disease in patients not known to have diabetes. However, there was no significant effect in those patients with β-thalassemia trait and megaloblastic anemia. Treatment of iron deficiency anemia significantly decreased the HbA1c level, bringing it back to normal.

An Uncommon Display of the Sickle Cell Trait Coupled with the Beta-Thalassemia Trait as Hypersplenism

Abstract A structural flaw in the globin gene causes hemoglobinopathies, while a flaw in the globin chain’s synthesis causes thalassemia. One of the most prevalent hemoglobinopathies worldwide is sickle cell disease. Any region of the body can be affected, but the spleen is one of the most often afflicted and the first organs to suffer damage in sickle cell anemia (SCA). Splenomegaly, splenic infarction, hypersplenism, and acute splenic sequestration are the most common manifestations. Usually enlarged in the first 10 years of life, it gradually atrophies and eventually requires an autosplenectomy. It is well established that splenic complications from SCA are linked to higher rates of morbidity and in some cases, even death. This case report discusses a unique presentation of a patient who has hypersplenism together with beta-thalassemia and sickle cell trait. This is a case report of the adult patient admitted in Dhiraj General Hospital, SBKS MIRC, Sumandeep Vidyapeeth, Waghodia, Piparia, Vadodara-391760. The high-performance liquid chromatography (HPLC) technique was used to diagnose thalassemia trait and sickle cell trait. The clinical, ultrasonographic and computed tomography scan methods have been used to identify splenomegaly. The patient had clinical symptoms suggestive of beta-thalassemia and sickle cell trait with hypersplenism. This was supported by his peripheral smear, ultrasonography, contrast-enhanced abdomen–pelvis, HPLC, and bone marrow biopsy. It is imperative that clinicians remain cognizant of this infrequent consequence. Hence, early diagnosis and genetic counseling are of great importance for improving the prognosis of these patients.

Thalassemia, a human blood disorder.

A group of inherited blood defects is known as Thalassemia is among the world's most prevalent hemoglobinopathies. Thalassemias are of two types such as Alpha and Beta Thalassemia. The cause of these defects is gene mutations leading to low levels and/or malfunctioning α and β globin proteins, respectively. In some cases, one of these proteins may be completely absent. α and β globin chains form a globin fold or pocket for heme (Fe++) attachment to carry oxygen. Genes for alpha and beta-globin proteins are present in the form of a cluster on chromosome 16 and 11, respectively. Different globin genes are used at different stages in the life course. During embryonic and fetal developmental stages, γ globin proteins partner with α globin and are later replaced by β globin protein. Globin chain imbalances result in hemolysis and impede erythropoiesis. Individuals showing mild symptoms include carriers of alpha thalassemia or the people bearing alpha or beta-thalassemia trait. Alpha thalassemia causes conditions like hemolytic anemia or fatal hydrops fetalis depending upon the severity of the disease. Beta thalassemia major results in hemolytic anemia, growth retardation, and skeletal aberrations in early childhood. Children affected by this disorder need regular blood transfusions throughout their lives. Patients that depend on blood transfusion usually develop iron overload that causes other complications in the body systems like renal or hepatic impairment therefore, thalassemias are now categorized as a syndrome. The only cure for Thalassemias would be a bone marrow transplant, or gene therapy with currently no significant success rate. A thorough understanding of the molecular basis of this syndrome may provide novel insights and ideas for its treatment, as scientists have still been unable to find a permanent cure for this deadly disease after more than 87 years since it is first described in 1925.

Undiagnosed Dual Blood Disorder – Thalassemia with Acute Myeloid Leukemia

Thalassemia syndromes represent a group of inherited disorders characterized by decreased synthesis of one or more of the four globin chains in hemoglobin. The clinical spectrum ranges from asymptomatic carrier state to transfusion-dependent severe disease. The availability of better treatment options has increased the life expectancy in these patients and consequently paved the way to develop malignancies. Although many studies are published on the association of solid organ and lymphoid malignancies, only one case has been reported so far for acute myeloid leukemia (AML) coexisting with thalassemia syndromes. Herein, we report the first case of AML associated with beta-thalassemia in an adult Indian expatriate woman in Qatar. She presented with prolonged bleeding after a dental procedure. She was diagnosed as concurrent AML and beta-thalassemia trait on the laboratory evaluation. This case signifies the use of peripheral blood film evaluation for any abnormal hemograms in the modern era of automation. It also warrants caution for clinicians in suspecting malignancies in thalassemia although direct genetic linkage or associated risk is a matter of research.

Z score analysis: A novel approach to interpretation of an erythrogram.

Z score defines the shift of an observed value from the mean. By determining the direction of this shift and its absolute value for mean corpuscular hemoglobin (MCH) and mean corpuscular hemoglobin concentration (MCHC), one can quickly screen the hemogram for any spurious results in RBC parameters and also predict the type of anemia. This is because MCH and MCHC are derived parameters (from Hb, RBC, MCV) and thereby reflect the true as well as false changes in an erythrogram. A total of 975 hemograms were studied retrospectively. Basic statistical formulae using mean and standard deviation were applied to calculate z scores for MCH and MCHC. Results obtained were compared with the standard method and validated by an independent cohort of 100 random samples run on a different machine. Z score was found to be statistically significant (p <.001) in diagnosing iron deficiency anemias, megaloblastic anemias, hemolytic anemias, regenerative anemias, anemia of chronic disease and spurious findings. Z score was not significant (p = 0.9) in predicting beta thalassemia trait. The sensitivity was low for the differentials of microcytic hypochromic anemias. Despite this, Z score can be of immense help to the clinicians and pathologists in making quick interpretation of the underlying red cell abnormalities. Also, it can be used as a quality assessment tool in hematology laboratories taking pre analytical and analytical factors into account.

Hematological Parameters: Manual vs Automated Method; Among the β-Thalassemia and other Haemoglobinopathies in a Tertiary Care Hospital in Kolkata

Background: According to a report of WHO in 2007, 7% of world populations are carrier for Haemoglobindisorder and accurate and timely detection of various Hb variants including beta thalassemia trait can preventoccurrence of more serious disorders like thalassemia major in new-borns. But in a developing country like ususe of high pressure liquid chromatography (HPLC) is limited, manual testing is done and accurate assessmentis quite impossible. So, an observational cross-sectional study was done among 117 β-thalassemia and otherHemoglobinopathies cases and carriers.Objective: To find out the variation between the results of haematological tests obtained by automated countingchamber and manual method.Materials &amp; Methods: This Observational, cross-sectional study was done at Thalassemia control unit and Physiologydepartment of R G Kar Medical College and Hospital, Kolkata. β-thalassemia and other Hemoglobinopathies casesand carriers detected by complete blood count with HPLC from Thalassemia Outpatient Department (OPD) andantenatal mothers from antenatal clinic (ANC) were the population of this study. Findings and variations of thefeatures of different hematological parameters amongst the β-thalassemia and other hemoglobinopathies werereviewed. A finding by HPLC was HbA, HbA2, HbF, HbD, and HbE.Results: Result of only Hb% obtained from HPLC and manual method was significantly different inβ- THALASSEMIA Trait (p=0.0001), HbE Trait (p=0.0001), HbS trait (p=0.0001) and not significant in HbE diseaseand no other Red cell indices were significantly different in two methods. Conclusion: As hematological featureslike TC of RBC or PCV results by manual method shows no significant differences with HPLC/Automated counter assessment, such methods can be utilized even at primary level cost effectively for assessment of hematologicaldisorders. But significant difference is seen in estimating Hemoglobin percentage in between Shalli‘s method andHPLC/Automated counter assessment. So some alternate method may introduce at lower level of health systemother than Shalli’s method

A Rare Case of Hb Q India- An Uncommon Hemoglobin Variant

Hemoglobinopathies are the most common hereditary disorders in India and pose a major health problem. Both beta-thalassemia and structural hemoglobin (Hb) variants are relatively common in North-Western India. Here, we report a case of a 26-year-old female (caste-Lohana) who came to us for premarital screening hemoglobinopathy. A complete blood count was done on automated cell counter. Hb analysis was carried out using high-performance liquid chromatography (HPLC) Bio-Rad VARIANT II Hb Testing System. HPLC analysis showed a peak in the unknown window with retention time (RT): 4.72 min and area: 18.9% and S-window with RT: 4.33 min and area: 0.5%, which was suggestive of Hb Q India. Further workup was done on other family members also. And found that the mother and sister of the patient also had similar findings (Hb Q India) and the father of the patient was positive for beta-thalassemia trait. Hb Q India is a rare hemoglobinopathy, which presents in mostly heterozygous form. The inheritance of Hb Q India is autosomal dominant.