Structural Hemoglobinopathies Research Articles

A comparative study to assess Hba1c levels in antenatal non diabetic women with anemia and without anemia

BackgroundGlycosylated hemoglobin (HbA1c) has a glucose residue attached to the terminal NH2 group (valine residue) of one or both HbA beta chains. HbA1c levels are not affected by blood glucose levels alone. HbA1c results are affected by several factors, such as anemia, structural hemoglobinopathies and thalassemia syndromes. HbA1c concentrations are affected by conditions that affect erythrocyte turnover. Iron deficiency anemia is the most common form of anemia. The prevalence of anemia among pregnant women in India is above 50 %. Although many forms of anemia are associated with the lowering of HbA1c, iron deficiency has been shown to shift HbA1c slightly upward. Research on this topic has yielded a variety of findings. In some research, there was no association observed between anemia and HbA1c levels; in other investigations, there was a rise or fall in this number. Iron deficiency anemia and HbA1c′s relationship is therefore still unclear. Therefore, this study aims to determine the correlation between Iron deficiency anemia and HbA1c levels among non diabetic pregnant women with anemia. MethodologyThis prospective observational study was conducted among singleton pregnant women attending antenatal clinic OPD in a private tertiary hospital in Chengalpattu, Kanchipuram district. After the complete review of their obstetric record, blood was collected in 5 ml sterile syringes and transferred equally to the two separate test tubes containing ethylene-diamine-tetra acetic acid (EDTA) anticoagulant for determining RBC indices and HbA1c levels. The difference in mean between two independent samples (between Anemia and Non-anemia) was determined using an independent sample t-test, and the difference between two independent proportions was calculated using a z-test. Bivariate Pearson's correlation analysis was used to adjudicate the relationship between red blood cell indices and HbA1c level, and correlation coefficient (r)was calculated, and the p-value of <0.05* was considered statistically significant. ResultsBivariate Pearson's correlation analysis was done to determine the relationship between HbA1c levels and red blood cells in anemic pregnant women. HbA1c levels negatively correlated with Hemoglobin (r = −0.875, p < 0.01*), PCV (r = −0.732, p =<0.01*) and transferrin saturation (r = 0.224, p < 0.01*) and it was statistically significant. Other indices, such as serum iron concentration and TIBC, demonstrated no correlation with HbA1c level. ConclusionThis study shows that the reliability of Hba1c in diagnosing diabetes among pregnant women with iron deficiency anemia is misguiding and can be considered after treating the condition. Also, more studies are needed to improve our understanding of this topic.

Molecular characterisation of sickle cell disease and classification of major haplotypes associated with the β-globin cluster (HBB gene) by means of SNP marker sequencing in a group of samples from Bolívar, Colombia

Background Colombia has a mestizo population and the prevalence of haemoglobin variants varies according to each region, but heterozygous carriers can be found in all of them. Aim To characterise sickle cell disease (SCD) haematologically, biochemically, and molecularly, and detect classic haplotypes by DNA sequencing in a group of samples from Bolívar, Colombia. Subjects and methods Blood samples were collected after informed consent from volunteers from eight communities in the Bolívar department, plus samples from the Pacific region, Providencia Island, and Bogotá were included. Data were obtained from: (1) haematological analyses; (2) biochemical tests: dHPLC was used to determine haemoglobin (Hb); and (3) DNA sequencing data through five SNPs. Results 101 samples were identified by rs334 through Sanger’s Sequencing, structural haemoglobinopathies HbAS (34.65%), HbSS (2.97%) and HbAC (1.98%) were found. When contrasting the Hb identification results between SNP rs334 Vs. dHPLC/Isoelectric Focusing (IEF), a coincidence was found in 39/43 samples analysed, therefore, when comparing these techniques, a significant correlation was found (Pearson’s correlation coefficient r = 0.998). 26 samples previously analysed by rs334 were classified into classical haplotypes CAR (50.0%), BEN (30.76%), CAM (7.69%), SEN (3.84%), and ATP-I (7.69%). Conclusions SCD characterisation and SNPs-based classification through Sanger’s DNA sequencing have not been performed before in Colombia. The results of this work will make it possible to expand the data or records of carriers and those affected, which will benefit patients and their families.

Regional Prevalence of Hemoglobin C Across Saudi Arabia: An Epidemiological Survey

IntroductionHbC is a common structural hemoglobinopathy especially in West Africa. Prevalence and regional distribution of HbC in Saudi Arabia are widely undocumented. Patients with homozygous HbC disease may have mild hemolytic anemia whereas combination with hemoglobin S (HbS) leads to a clinically severe phenotype.AimThe current epidemiological study, considered the largest from Saudi Arabia, aimed to evaluate the regional prevalence of the HbC variant among the couples participating in the premarital screening program from 2011 to 2018.MethodsData from the PMSGC program were obtained for premarital screening and genetic counseling. The collected data were then entered into the SEHA platform, a centralized electronic repository for the 13 designated regions in Saudi Arabia. Hemoglobin electrophoresis samples are analyzed using either HPLC, capillary electrophoresis, or a combination of both methods to confirm the presence of abnormal hemoglobin bands.ResultsThis study included 1,871,184 individuals from 2011 to 2018. Of those, 49.8% were males and 50.2% were females. 112,618 (6.0%) had an abnormal test. Total number of Hb C cases were 778 (0.04%). HbC trait (HbAC) was detected in 764 participants while homozygous HbC (HbCC) and combined heterozygous (HbSC) were found in 9 and 5 cases, respectively. The regions near the Red Sea have higher rates than the central and eastern regions.ConclusionHbC is a rare variant in Saudi Arabia with varying regional frequencies. HbC variant is more common in Mecca and Madina regions. The geographic area of HbC distribution differs from the areas with high prevalence of HbS, which explains why HbSC disease cases are overwhelmingly rare.

The Impact of Bone Pain Crises on Platelet Parameters in Sample of Iraqi Sickle Cell Anemia Patients

BACKGROUND: Volume indices and count of platelets through sickle cell anemia (SCA) steady state are modified by chronic hemolysis, red blood cell sickling, and vaso-occlusion induced by this structural hemoglobinopathy. The bone pain crises additionally change these parameters. The recognition of the modification in platelet indices has a significant impact on understanding the pathogenesis and outcome of sickle cell disease patients. OBJECTIVES: This study objective is to compare volume indices and count of platelets of SCA patients in steady and through bone pain crisis states. PATIENTS AND METHODS: This is a retrospective cohort study that included 82 SCA patients who received care between October 2022 and October 2023 at the Hereditary Blood Disease Center, Basra, Iraq Written consent was obtained from all the participants and legal guardians. The criteria of inclusion involved SCA patients of 13 years old and older who presented to the center at the period of the stdy. They had their platelet count and volume indices measured during the crises of bone pain and in the steady state later on. Platelet count, platelet distribution width (PDW), plateletcrit (PCT), mean platelet volume (MPV), and platelet-large cell ratio (P-LCR) were measured by the automatic analyzer. RESULTS: Through bone pain crises as well as steady state, patients had a normal mean platelet count in comparison to the reference values of non-SCA population. It was found that MPV, PDW, PCT, and P-LCR were different in a significant way between the steady and bone pain crisis states, with P ≤ 0.001 with the mean values of 9.69 ± 1.25 versus 11.09 ± 0.99 for MPV, 13.27 ± 0.46 versus 15.78 ± 0.65 for PDW, 0.31 ± 0.03 versus 0.36 ± 0.01 for PCT, and 0.16 ± 0.01 versus 0.18 ± 0 for P-LCR, respectively. CONCLUSIONS: Through the steady state as well as bone pain crisis, the platelet count of SCA patients showed a normal value according to the range of reference for the normal population with no SCA. The P-LCR, MPV, PCT, and PDW were different significantly between SCA two clinical states as they became higher through the state of bone pain crises. This finding reflects the increment in the activation of platelets and the existence of large platelets in circulation at the time of vaso-occlusive crises.

A Newborn Screening Program for Sickle Cell Disease in Murcia (Spain).

Sickle cell disease (SCD) is an inherited autosomal recessive hemoglobin disorder caused by the presence of hemoglobin S, a mutant abnormal hemoglobin caused by a nucleotide change in codon 6 of the β-globin chain gene. SCD involves a chronic inflammatory state, exacerbated during vaso-occlusive crises, which leads to end-organ damage that occurs throughout the lifespan. SCD is associated with premature mortality in the first years of life. The process of sickling provokes asplenia in the first years of life with an increased risk of infection by encapsulated germs. These complications can be life-threatening and require early diagnosis and management. The most important interventions recommend an early diagnosis of SCD to ensure that affected newborns receive immediate care to reduce mortality and morbidity. The newborn screening program in the region of Murcia for SCD began in March 2016. We aimed to determine the incidence of sickle cell anemia and other structural hemoglobinopathies in the neonatal population of the region of Murcia, an area of high migratory stress, and to systematically assess the benefit of newborn screening for SCD, leading to earlier treatment, as well as to offer genetic counseling to all carriers. The prevalence of SCD in our region is similar to others in Spain, except for Catalonia and Madrid. The newborns with confirmed diagnoses of SCD received early attention, and all the carriers received genetic counseling.

Incidental finding of rare hemoglobin: hemoglobin Bari in northeast Spain

Abstract Objectives Cation exchange high-performance liquid chromatography (HPLC) is one of the techniques available for determining glycated hemoglobin (HbA1c) and also the method of choice for structural hemoglobinopathies screening. The objective of this case is to show how in a routine HbA1c test it is possible to incidentally find a hemoglobinopathy. Case presentation In a routine blood analysis, an abnormal value for the hemoglobin A2 (HbA2) was obtained during the study of HbA1c with HPLC on the ADAMS™ A1c HA-8180T. After suspecting it could be due to the presence of a hemoglobinopathy, the study of possible variants was expanded using electrophoresis and HPLC on the Hydrasys and Variant II analysers, respectively. Since it could not be identified by these conventional methods, a genetic study was also carried out using Sanger sequencing. The patient presented a low HbA2 (1.3 %) and a 24.9 % variant with a retention time of 1.95 min, compatible with alpha-globin chain variant. In the genetic study, the pathogenic variant c.138C&gt;G was detected in the HbA 2 gene in heterozygosis, which resulted in the expression of the structural hemoglobinopathy known as hemoglobin Bari. Conclusions The initial screening for structural hemoglobinopathies allows its identification or suspicion especially when it was performed with HbA1c analysis, requiring subsequent confirmation and diagnosis by other techniques.

New-Generation Ektacytometry Study of Red Blood Cells in Different Hemoglobinopathies and Thalassemia

Next-generation ektacytometry provided by the osmoscan module of the Laser Optical Rotational Red Cell Analyser (LoRRca) MaxSis is, so far, one of the best complementary diagnostic tools for congenital rare anaemias due to red blood cell defects. Osmotic gradient ektacytometry (OGE) is currently considered the gold standard for the diagnosis of red cell membrane disorders, especially hereditary spherocytosis (HS). Impairment of red cell deformability, leading to a decrease in red cell survival rate, is the common trait of hereditary haemolytic anaemias; in general, it is the consequence of an abnormal cell shape, increased rigidity or dehydration. Up to now, the next-generation ektacytometry has been mainly used for the differential diagnosis of red blood cell membranopathies, but experience with structural hemoglobinopathies and thalassemia is still scarce. However, recently, many new forms of therapy are being developed for the treatment of hemoglobinopathies, particularly sickle-cell disease and β-thalassemia; clinical interest in ektacytometry is increasing and should be further explored. Here, we have evaluated the OGE profiles provided by the osmoscan module of the LoRRca ektacytometer in 96 patients with different hemoglobinopathies, both structural and thalassemia, with the aim of analysing their usefulness for the early diagnosis of these disorders either individually or in co-inheritance with other hereditary RBC defects. In addition, this study aims to improve our knowledge of the contribution of red cell deformability, osmotic fragility and intracellular viscosity to the physiopathology of haemolysis, especially when these disorders are a cause of rare anaemia. From this study, we conclude that the osmoscan profile provides complementary information on red cell deformability and hydration homeostasis that may contribute to the better understanding of the physiopathology of decreased red cell survival and hemolysis which is present in some patients.

Basic biochemical and hematological parameters of structural hemoglobin variants in the postpartum women and their respective newborn from Manaus, Amazonas, Brazil

The present study aimed at estimating the prevalence of structural hemoglobinopathies in newborn and describing the hematological and biochemical characteristics between postpartum women (PW) and their respective newborns (NB) at a public maternity hospital in Manaus, Amazonas state, Brazil. In total, 825 NB and 820 PW were included in the study. Hematological and biochemical analysis and screening of structural hemoglobinopathies were performed and compared in groups of individuals (NICU or not; hemoglobin genotypes; gestational age and prenatal). The age of PW ranged from 13 to 44 years old (mean of 23.7 ± 6.6 years), with 45.9% pregnant for the first time and 54.1% multiparous. Reported receiving prenatal care 88% and regarding the type of delivery, 47.7% had delivered by cesarean section. Among the births, 19.4% were born premature and 8.3% were admission to the neonatal intensive care unit (NICU). The male NB represented 53.4% of the total. Sickle cell trait (FAS) was found in 16 (1.94%) and heterozygous for D hemoglobin (FAD) in 6 (0.73%) newborns. A statistically significant values was found between the previous history of miscarriage and increase of Mean corpuscular volume (MCV) (p < .001), Red blood cell distribution width (RDW) (p = .003), total and indirect bilirubin concentration (p < .001) and LDL cholesterol (p = .004). Hemoglobin levels below 13.5 g/dL was found in 66% black newborns, compared with 15% of Afro-Brazilian and 5% of whites. The frequency of structural hemoglobinopathies was higher in African-Brazilian newborn babies (78%) and those who with low birth weight had a higher frequency of NICU (35.7%). Interestingly, underage mothers had a higher frequency of NB with low birth weight and premature birth. Postpartum women who had children carriers of FAS and FAD had a higher frequency of urinary tract infection (65.2%) and moderate anemia (23.8%). This study estimated for the first time the prevalence of structural hemoglobinopathies in NB in Manaus, Amazonas, Brazil. Despite the small prevalence of, we highlight the importance of early diagnosis of hemoglobin variants, contributing to the improvement of the quality of life of PW and your NB, reinforce the need to implement educational and prevention programs to raise awareness among the population and in order to counsel parents regarding the probability of having a child with abnormal hemoglobins homozygous as HbSS or HbCC.

Natural Acquired Immunity to Malaria Antigens among Pregnant Women with Hemoglobin C Trait.

Hemoglobin C is the second most common structural hemoglobinopathy in Africa, and carriers have a reduced risk of severe malaria. However, the effect of HbAC on the antibody response to malaria antigens in pregnancy has not been studied. Here, we measured PfEMP1-specific antibodies in plasma samples from 74 Beninese pregnant women with either HbAA or HbAC. IgG-mediated inhibition of VAR2CSA+ infected erythrocytes adhesion to chondroitin sulfate A (CSA) was also tested. PfEMP1-specific IgG levels to VAR2CSA were significantly lower in HbAC women, suggesting less exposure to VAR2CSA. In contrast, the percentage of VAR2CSA+-infected erythrocytes adhesion to CSA was not different between HbAA and HbAC women. Moreover, IgG levels to PfEMP1 variants associated with severe malaria were not significantly different between groups. The findings indicate similar exposure to Plasmodium falciparum parasites expressing PfEMP1 variants causing severe malaria, and justify more comprehensive studies of hemoglobinopathy-related qualitative and quantitative differences in PfEMP1-specific antibody responses.

Haemoglobinopathies: A Retrospective Study from a Tertiary Care Centre, Southern India

Introduction: Thalassaemia and other structural haemoglobinopathies are the major genetic disorders that cause significant morbidity in children. Haemoglobinopathies need to be diagnosed at the earliest in order to offer suitable treatment, carrier identification and counseling which will help to decrease the incidence of haemoglobinopathies. Aim: To study the clinicohaematological spectrum of children with thalassaemia and other haemoglobinopathies, followed by family screening and counseling. Materials and Methods: This retrospective cross-sectional study was taken up at Department of Pathology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India from January 2018 to December 2020, during which records of 235 cases were studied, out of which 100 were the children visiting institute and 135 were the parents and siblings of these children. Diagnosis of these cases was followed by counseling for these families. Results were calculated by data analysis. Percentages were calculated from the frequency of the variables. Results: Amongst the records of 235 cases studied, β thalassaemia major was the most common haemoglobinopathy found in 75 patients, followed by sickle cell anaemia in 10 patients. β thalassaemia trait was the most common haemoglobinopathy among the parents of these children, which was found in 125 individuals. Conclusion: β thalassaemia major is the most common disorder amongst the children with haemoglobinopathy, followed by sickle cell anaemia. β thalassaemia trait is a common entity amongst the carriers of haemoglobinopathy.

Distribution of β-Thalassemia and Other Hemoglobinopathies in Bangladeshi University Students and Ready-Made Garment Workers.

BackgroundThe inheritable thalassemia and other structural hemoglobinopathies are prevalent globally. In Bangladesh, there is a scarcity of studies concerning thalassemia and other structural hemoglobinopathies. Hence, the present study investigated the prevalence and distribution of β-thalassemia and other hemoglobinopathies among the university students and ready-made garment (RMG) workers.MethodsA cross-sectional study was conducted, whereas a total of 989 subjects were selected randomly from 10 garments industries (n=495) and five universities (n=494) for diagnosis and counseling from April 2018 to August 2018. Basic information related to the study and venous blood was collected and subjected to capillary Hb-electrophoresis for each participant.ResultsThe present study identified thalassemia carriers and other hemoglobinopathies among 13.6% of the participants (14.1% university students and 13.2% RMG workers). The most common form of hemoglobin formation disorder was the Hb-E trait (10.5%), considering both participants’ groups. Other forms of hemoglobin formation disorders observed were a β-thalassemia trait, Hb-D trait, Hb-E disease, and β-thalassemia major. The hemoglobinopathies were significantly associated with the individuals who had a family history of thalassemia and were not vaccinated against hepatitis B in the total sample. Although not statistically suggestive, the most considerable portion (87.3%) of the carriers was unmarried in the present findings.ConclusionThe present study findings are anticipated to help the public health authorities by providing novel data (of a neglected cohort, ie, RGM workers), facilitating the upcoming comprehensive national thalassemia prevention programs.

Detection of Common Deletional of α-Thalassemia 3.7 Kb from Metropolitan Region of Manaus, Amazonas, Brazil.

BackgroundAlpha Thalassemia (α-thal) is a heterogeneous group of hereditary alterations caused by deletions that affect alpha regulatory genes, and the 3.7Kb deletion is the most frequent worldwide. The prevalence ranges from 20% and 35% in Brazil, depending mainly on race, predominant in Afro-descendants.PurposeThe aim was to determine α-thal -α3.7Kb and -α4.2Kb deletions, estimating their frequency in individuals from six regions of Amazonas State.MethodsVolunteers age between 18–59 years old of both genders participated in the study. Blood was collected from March 2014 to September 2017 at the health centers of each participant city. α-thal3.7Kb was performed by GAP-PCR, while α-thal4.2Kb by Multiplex-PCR. The total samples collected from each city were: Manaus (capital), 356 (19.7%); Iranduba 232 (12.8%); Manacapuru, 287 (15.9%); Presidente Figueiredo, 370 (20.5%); Itacoatiara, 301 (16.6%); and Coari, 263 (14.5%).ResultsThe average age among males was 35.3±14.8, while for females, it was 36.7±14.9 years old. Microcytosis (MCV <80fL) was found in 158 individuals (8,46%) and α-thal diagnosed in 143 individuals (7.9%), and all of these individuals carried the 3.7Kb deletion 5.95% in heterozygous and 1.95% in homozygous. α-thal4.2kb was not found in any volunteer. The association analyses to the α-thal3.7kb genotypes were statistically significant for all hematological parameters (p<.001), except serum iron and serum ferritin analyses.ConclusionThis study highlights α-thal 3.7kb deletion as an important public health problem, especially in a population not yet characterized about this disease. Thus, epidemiological studies using molecular tools become relevant in regions where the disease is underestimated, contributing to a better understanding of thalassemia incidence and iron deficiency anemias incidence of the participating cities. We reinforce that future molecular studies in North Region from Brazil can be utilized to describe other genetic anemias as structural hemoglobinopathies that have already proven to be highly prevalent in Brazil.

Genetic epidemiology of hemoglobinopathies among Iraqi Kurds.

Hemoglobinopathies are major health problems among Iraqi Kurds, who are a distinct ethnic group inhabiting North and Northeastern Iraq. We reviewed published literature on these disorders in this part of the world, and it was revealed that the most prevalent is β-thalassemia with carrier rates of 3.7-6.9%. Alpha thalassemia is less prevalent with carrier rates of0.03-1.22%, while the sickle cell gene is variably distributed with carrier rates of 0.06-1.2%. Other structural hemoglobinopathies and δβ-thalassemia are sporadic. Twenty-seven different β-thalassemia mutations were identified, with seven constituting 82% of 1039 chromosomes characterized, namely: IVS-II-1 (G>A), IVS-I-6 (T>C), IVS-I-I (G>A), codon 8 (-AA), codon 8/9 (+G), IVS-I-110 (G>A), and codon 5 (-CT). There were notable regional variations in the distribution of β-thalassemia mutations, with Cd44 being mainly prevalent in the North, while IVS-I-110 is mainly prevalent in the East. In relevance to α-thalassemia, ten different mutations were detected, with the four most frequent constituting 92.4% of 262 alleles characterized being: -α3.7, --MED, α-5ntα, and αPolyA1α. In relevance to sickle cell gene, it is seen in the northern part of the region bordering Turkey, with comparable prevalence rates, and is associated, similar to Turkey, mainly with the Benin haplotype, unlike that in Southern Iraq where it is associated with the Arab-Indian haplotype, similar to Eastern Arabian Peninsula. Given the high prevalence of hemoglobinopathies in the region, and the high rates of consanguineous marriages, a preventive program was initiated in 2008, and results of its first 5 years were promising, though there are still many outstanding challenges that require addressing.

Spectrum of hemoglobinopathies in a tertiary care centre

Background: Thalassemia and other structural hemoglobinopathies are the most common single gene disorders throughout the world with the highest frequency in the tropics, subtropics, Mediterranean basin and Southeast Asia. This study aims to provide a better assessment on the spectrum of hemoglobinopathies in our context.&#x0D; Materials and Methods: This descriptive study was done at our tertiary care center, from November 2014 to October 2015. Hematological indices were derived from coulter counter, haemoglobin electrophoresis was carried out by cellulose acetate medium at alkaline PH. Sickling test, Hb H inclusions demonstration and Hb F estimation were performed. Parental screening was done wherever feasible.&#x0D; Results: Out of 350 cases referred from various out-patient departments of TUTH and different peripheral hospitals for suspected hemoglobinopathies, 97 cases (27.71%) had hemoglobinopathies. The most predominant hemoglobinopathy was thalassemia (57.73%) followed by sickle cell disorders (28.87%) and Hb D/Hb E hemoglobinopathies (13.40%). Most disorders were observed in the age group 21-30 years with many of the cases seen clustered in the families and a slight male preponderance. Terai region (71.13%) had a very high number. A significant high frequency of thalassemia (33.93%) and sickle cell disorders (75%) were seen in Tharu community.&#x0D; Conclusion: Hemoglobinopathies were seen widespread in Nepal. An extensive screening of the population is important to assess the prevalence of hemoglobinopathies, which will help in identification of carriers and take adequate therapeutic and preventive measures.&#x0D;

Hemoglobinopathies and Sickle Cell Disease

Key Points Inherited hemoglobin disorders account for most common single-gene defect in humans.Thalassemias are caused by mutations in the globin gene cluster, resulting in a decrease in globin chain synthesis while structural hemoglobinopathies usually result from a point mutation in the α- or β-globin gene that causes a functional abnormality.High-performance liquid chromatography has become the test of choice for the diagnosis of thalassemias and hemoglobinopathies because it reliably separates different hemoglobins.Newborn screening has helped with early diagnosis and management, thus decreasing morbidity and improving longevity.Blood transfusion, and appropriate use of iron chelating agents are mainstay of the treatment. Use of appropriate antibiotic prophylaxis starting from the neonatal period and appropriate vaccinations have decreased morbidity and improved survival in patients with sickle cell disease.

Epidemiological and clinical study of sickle cell disease at tertiary care centre in western India

Background: Sickle cell disorders are structural hemoglobinopathies, rendering red blood cells sickle shaped, less deformable and sticky leading to microvascular vaso-occlusion and premature red blood cells destruction which leads to varied clinical manifestations. It leads to lifelong morbidity thus affecting quality of life and contributes to early mortality thereby reducing the key national resources- the healthy workforce. This study was done to evaluate epidemiological and clinical profile of sickle cell disease attending the centre.Methods: This study was cross-sectional, observational study conducted at tertiary care hospital in Gujarat. After taking ethical clearance patients were enrolled as per inclusion and exclusion criteria and epidemiological and clinical profile of sickle cell disease patients was studied.Results: Mean age of sickle cell disease was 22.58 years. It was found in tribal communities of Gujarat like Rathwa, Baria, Tadvi etc. Commonest symptom was musculoskeletal pain (86.84%), followed by jaundice (71.05%), fever, dyspnoea, abdominal pain and chest pain. Most common systemic manifestation was pain crises (60.66%), followed by hemolytic anemia (31.15%), acute chest syndrome (30%), consolidation (11.67%), hepatopathy (10%) and avascular necrosis of hip. (6.56%).Conclusions: Sickle cell disease is seen in younger patients. In Gujarat mainly tribal communities are affected. Major systemic manifestations of sickle cell disease include pain crisis followed by hemolytic crisis, acute chest syndrome, hepatopathy and AVN of hip.

Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014.

The hemoglobinopathies are a group of disorders passed down through families (inherited) in which there is abnormal production or structure of the hemoglobin molecule. They are among the most common inherited diseases around the world. Those that produce abnormal hemoglobin are called structural hemoglobinopathies while thalassemia is another type of disorder that is caused by a defect in the gene production of the globin chains. In a study ambispective comprising 1623 patients, 153 subjects showed an abnormal hemoglobin and 1470 with hypochromic and microcytic anemia, and of these 1470, 23 patients were studied for simultaneously α-thalassemias and structural hemoglobinopathies. Among the α-thalassaemia cases, 1282 cases (87.2%) were deletional α-thalassemia, 172 cases (11.7%) were non-deletional α-thalassemia, and 16 cases (1.1%) were deletional and non-deletional α-thalassamias simultaneously. Thus, approximately 12% of the cases were non-deletional α-thalassaemia. Clinical diagnosis, only 19 severe cases (1 hydrops fetalis and 18 instances of Hb H disease), 1200 thalassamias traits, and 160 thalassaemia silent carriers were recorded within the α-thalassaemia. Regarding structural hemoglobinopathies, there were only 2 cases of hemoglobinopathies with low oxygen affinity and 1 case of hemoglobin M; the remaining 150 were silent hemoglobinopathies. Non-deletional α-thalassaemia represented 12% of all α-thalassemias in our region; the most common deletion in our area was the 3.7-kb deletions, followed by Asian --(SEA) and --(FIL). The alterations responsible for non-deletional α-thalassaemia are most represented by the Hph and Hb Groene Hart and, in the case of structural hemoglobinopathies, Hb Le Lamentin and Hb J-Paris.

Differentiation of Sickle Cell Zygosity Utilizing a Sodium Metabisulfite Method

Hemoglobinopathies are the most prevalent monogenetic disorder worldwide, and sickle cell disease is the most prevalent and severe structural hemoglobinopathy. Globally, over 85% of the sickle cell gene penetrance occurs in sub‐Saharan Africa (64.4%) and Arab‐India (22.7%) which contains the poorest countries on earth. Diagnosing sickle cell disease remains problematic in these populations where poverty severely limits clinic budgets, country infrastructure, and healthcare education making the use of modern diagnostic methods impractical. By modifying an established sodium metabisulfite method to detect sickle cells, we developed a simple, rapid, cost‐effective, microscopic method to distinguish the homozygous genotype (SS) seen in sickle cell disease (SCD) from the heterozygous genotype (AS) seen in sickle cell trait (SCT). We hypothesized that the two zygosities can be differentiated by observing the number, intensity, and rate of sickle cell formation over time. A solution of 2% sodium metabisulfite was prepared and 15 μL was mixed with 15 uL of patient blood and 5uL of the mixture was transferred to a microscope slide for evaluation using 100x oil immersion brightfield microscopy. Sickle cells were counted in one hour intervals for three hours and judged for sickling intensity on a 0–4+ Likert Scale. It was determined that 4+ sickle cells at 3 hours incubation optimally differentiated SS from AS genotypes. SS samples had an average of 135, 4+ sickle cells (N=10) compared to 12, 4+ sickle cells in the sickle cell trait samples (N=5) at three hours. Although more data are being collected, this inexpensive method can potentially be used to diagnose SCD and SCT, benefiting countries where there are limited resources.Support or Funding InformationAL is supported by DeNardo Education and Research Foundation Fellowship.This abstract is from the Experimental Biology 2019 Meeting. There is no full text article associated with this abstract published in The FASEB Journal.

Beta-Talasemia: Un mundo de complicaciones con nuevas alternativas de tratamiento.

Introducción: β-talasemia, es causada por mutaciones en el gen de la globina HBB, que codifica la subunidad β de la HbA. La enfermedad es conocida por ser altamente prevalente en el área que se extiende desde África subsahariana, a través de la región mediterránea y Medio Oriente. En Colombia, se han reportado varios estudios independientes de hemoglobinopatías en ciudades como Cartagena, Buenaventura, Cali, San Andrés y Providencia debido a su gran población afrodescendiente sobre la cual las Talasemias y otras hemoglobinopatías tienen incidencia directa. Objetivo: recolectar datos acerca de las características clínicas, complicaciones y clasificaciones de β-talasemia con el fin de brindar una fuente de información que permita realizar un diagnóstico eficaz y en consecuencia un tratamiento que busque llegar a la curación completa de los pacientes que sufren esta condición, con el mínimo de complicaciones para los mismos. Conclusión: la β-Talasemia es una hemoglobinopatía estructural que tiene un porcentaje de prevalencia e incidencia importante en el mundo. En Colombia no se tiene claro cuál es la epidemiología real para esta condición puesto que no se han realizado estudios que abarquen una muestra adecuada y significativa. Esta enfermedad genera múltiples complicaciones en diferentes órganos, que no solo están asociadas al desarrollo de la enfermedad, sino también a la terapia de trasfusión a largo plazo. Por esta razón, los nuevos tratamientos están encaminas a lograr en un futuro la curación completa, reduciendo al máximo las complicaciones.

Anemia de células falciformes en pediatría: Revisión de la literatura

Introducción: La anemia falciforme es una hemoglobinopatía estructural de origen genético, se caracteriza por la presencia de hemoglobina falciforme. La hemoglobina anormal es inestable, tiende a polimerizarse y puede ocluir la microcirculación, produciendo manifestaciones multisistémicas tanto agudas como crónicas relacionándose con mayor riesgo de contraer infecciones. Objetivo: Describir la información del tema expuesto resaltando los aspectos más relevantes como diagnóstico y tratamiento. Metodología: Se efectuó una revisión bibliográfica con búsqueda electrónica en las siguientes bases de datos: PubMed, MEDLINE, Medscape, Scopus; y se incluyó diferentes tipos de artículo (artículos originales, revisiones de temas y guías de manejo) que abordaran la anemia de células falciformes en pediatría. Resultados: Se obtuvo una revisión de 22 artículos, donde se describe el tema de anemia de células falciformes, pautas y tratamientos basados en el manejo y control de los síntomas; se evidencia que el uso de ecografía doppler transcraneal y las transfusiones demostraron ser estrategias preventivas o de tratamiento eficaces para las complicaciones relacionadas con esta patología en los niños. Conclusiones: En Colombia, la prevalencia de la patología no se encuentra establecida. Por otra parte, las principales manifestaciones se relacionan con complicaciones de vaso-oclusión en los diferentes órganos y la asplenia funcional, la cual predispone a cuadros infecciosos. [Tirado-Pérez IS, Zárate Vergara AC. Anemia de células falciformes en pediatría: Revisión de la literatura. Revisión de tema. MedUNAB 2017-2018; 20(3): 374-382].