A Novel Association of HbQ India Trait with Sickle Cell Anemia: a New Insight in Hemoglobinopathies (original) (raw)
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Compound Heterozygous Sickle Cell-β-Thalassemia: A Case Report from Upper Assam, India
National Journal of Laboratory Medicine, 2016
Sickle cell-β-thalassemia [Hb S/β-thalassemia] is a rare type of hemoglobinopathy. The clinical characteristics of Hb S/β-thalassemia are highly variable from a completely asymptomatic state to a severe disorder like homozygous sickle cell disease. In India IVS I-5 (G→C) is the most common β-thalassemia allele. In this study we presented a case of compound heterozygous Hb S/β-thalassemia in a 14-year-old female with complaints of anemia with weakness, joint pain and splenomegaly. The patient and her parents were diagnosed by HPLC and for detection of mutational pattern of β-thalassemia; ARMS-PCR and DNA sequencing were performed. The HPLC report suggested that the patient have Hb S/β-thalassemia and molecular diagnosis confirmed that the patient inherited IVS I-5 (G→C) β-thalassemia mutation. CASe RepoRT A 14-year-old female with complaints of anemia with weakness, joint pain and stomach pain presented in the Outpatient Department of Pediatrics. After taking informed consent systemic examination of the patient was done and the patient's spleen was found to be enlarged.
MVP Journal of Medical Sciences, 2017
Introduction: Sickle cell haemoglobinopathy is an inherited hemoglobinopathy resulting from a mutation occurring in betaglobin gene, on chromosome 11. The gene is prevalent in some tribes of North Maharashtra. The main aim of the study is to determine haemoglobin patterns in cases with sickle cell hemoglobinoathies in North Maharashtra using HPLC testing system. Material and Methods: This is a prospective study done over a period of 6 years. 10081 patients having positive solubility test or negative solubility test but having clinical suspicion of Sickle cell hemoglobinopathies were studied in detail and all samples were subjected for HPLC testing. Results: Prevalence of sickle cell hemoglobinopathy in this study was 70.36%. Most common pattern of haemoglobin observed was SA (89.72%). A slight female preponderance (54%) was noted. Predominant age group was paediatric (39.96%), followed by12-20yrs (33.97%). Oldest case for HbSS was 55yrs male. Predominant category affected was ST (82...
Clinico-Hematological Profile of Hb Q India: An Uncommon Hemoglobin Variant
Indian Journal of Hematology and Blood Transfusion, 2017
Inherited hemoglobin disorders include thalassemias and structural variants like HbS, HbE, and HbD, Hb Lepore, HbD-Iran, Hb-H disease and HbQ India. HbQ India is an uncommon alpha-chain structural hemoglobin variant seen in North and West India. Patients are mostly asymptomatic and often present in the heterozygous state or co-inherited with beta-thalassaemia. This study was done in a tertiary care teaching hospital in North India over a period of 7 years among patients referred from antenatal and other clinics for screening of hemoglobin disorders. Complete blood count, peripheral blood smear examination and cation exchange high performance liquid chromatography (HPLC) was done to quantify various hemoglobins. HbQ India was diagnosed if the unknown variant hemoglobin was detected within the characteristic retention window. Of a total of 7530 patients screened, 31 (0.4%) were detected to have HbQ India. Of these, 25 (0.3%) patients had HbQ India trait and 6 (0.1%) patients had compound heterozygosity for HbQ India and Beta Thalassemia trait (HbQ India-BTT). All patients were clinically asymptomatic and were detected as part of the screening for hemoglobin disorders. Only two patients with HbQ India-BTT had hemoglobin less than 10 g/dL. In 25 patients with HbQ India trait, HbQ ranged from 13.6 to 24.4% and in 6 patients with HbQ India-BTT, HbQ India ranged from 7.4 to 9.0%. HbQ India is an uncommon structural hemoglobin variant. Although asymptomatic, it may cause diagnostic difficulty in the compound heterozygous state with beta thalassemia. HPLC provides a rapid, accurate and reproducible method for screening of this condition to identify and counsel individuals.
Sickle cell anemia associated with α-thalassemia in Malaysian Indians
American Journal of Hematology, 1986
The Indian rubber estate workers in Negri Sembilan, Malaysia, who originated from Orissa in India were found to have a high frequency of Hb S (Joishy SK, Hassan K: Clin Res 28:280, 1980). Unlike the usually severe clinical picture of sickle cell anemia seen in African and American blacks, the clinical picture of the disease in this population was mild and many have reached old age. We studied the leukocyte DNA of 12 patients with sickle cell anemia, ranging in age from 4 to 61 years and 30 sickle cell trait carriers, ranging in age from 7 to 63 years, for the presence of or-globin gene deletions by gene mapping according to Southern (Southern EM: J Mol Biol 98503, 1975), using a-and <-globin gene probes obtained by nick translation of the a-and {-globin genes cloned into plasmid. All 12 sickle cell anemia patients were found to have a-thalassemiaz (a-thalz), either in the homozygous or heterozygous condition. Of the Hb S trait carriers, six did not have or-thalz or or-thall and 24 had a-thalz (15 heterozygous, 9 homozygous). Seven of these Hb S trait carriers with athalz had an additional gene abnormality. Five of them had a fast-moving Eco RI fragment 5.6 kb long that hybridized with [-specific probe but not with a-specific probe. An unusual DNA pattern of a different type was further found in the other two. Bgl I1 restriction analysis showed that the or-thalz was mostly of the rightward deletion or-thal, genotype. None of the sickle cell anemia patients and Hb S trait carriers had deletion type a-thall. The sickle cell anemia patients had very high levels of Hb F and low levels of Hb Az. The Hb S trait carriers with a-thalz had relatively low levels of Hb S.
International Journal of Laboratory Hematology, 2018
IntroductionThe hemoglobinopathies pose a significant health burden in India. Apart from the β thalassemias and sickle cell disorders, α thalassemias and structural hemoglobin variants are also common. Here we have reviewed the phenotypic and molecular diversity of hemoglobinopathies encountered at a referral center in western India over a period of 15 years.Materials and MethodsScreening for hemoglobinopathies was done using HPLC and cellulose acetate electrophoresis. Molecular characterization was done using Covalent Reverse Dot Blot Hybridization (CRDB), Amplification Refractory Mutation System (ARMS), GAP PCR and direct DNA sequencing.ResultsThe study includes 31 075 individuals who were referred for diagnosis of hemoglobinopathies and prenatal diagnosis. Of these 14 423 individuals showed various hemoglobin abnormalities. Beta genotyping in 5615 individuals showed the presence of 49 β thalassemia mutations. 143 β thalassemia heterozygotes had normal or borderline HbA2 levels. W...
Hemoglobin, 2018
Hemoglobinopathies evolved as a protective mechanism against malaria, which exhibit selective advantage in the heterozygous state. However, in a homozygous recessive condition, it poses a serious socioeconomic burden. Sickle cell anemia is an autosomal recessive hemoglobinopathy associated with erythrocytes sickling, vaso-occlusive crisis (VOC), as well as multi-organ failure and death. The coinheritance of other hemoglobinopathies is known to substantially modulate the clinical manifestation of sickle cell anemia. In the present study, we aimed to analyze the coinheritance of b-thalassemia (b-thal) in Hb S (HBB: c.20A>T) patients. The study includes 918 sickle cell anemia patients from 10 ethnic populations of Chhattisgarh State, India. Complete blood counts (CBCs) and hemoglobin (Hb) high performance liquid chromatography (HPLC) fractionation data were collected from patient record books. We observed Hb S-b-thal in all the analyzed populations. Interestingly, high frequencies of Hb S-b-thal have been observed in Satnami (53.8%), Rawat (47.1%), Gond (35.1%) and Panika (30.6%) populations. Inter-population comparison of hematological parameters [Hb F (p < 0.001), Hb A 2 (p < 0.001), Hb (p ¼ 0.03) and red blood cell distribution width (RDW) (p < 0.001)] revealed significant differences. We also observed that mean Hb F levels were significantly higher in Hb S compared to Hb S-b-thal patients in the respective populations. Our study highlights the higher prevalence of b-thal as well as the compound heterozygosity for Hb S and b-thal in various populations of Chhattisgarh State, India.
Incidence of Sickle Cell Anaemia and Thalassaemia in Central India
2012
Haemoglobinopathies are group of diseases characterized by abnormalities both quantitative and qualitative in the synthesis of haemoglobin. Haemoglobinopathies consist of sickle cell anaemia (SCA), thalassaemia (βT) and variant haemoglobins. In India, they are responsible for the largest number of genetic disorders and hence are of great public health hazardous. In India major concerned haemoglobinopathic disorders are sickle cell anaemia and β-thalassaemia. Of the several abnormal haemoglobin molecules, four which are widely prevalent in India include: HbS, HbβT, HbE and HbD. Examination of 6463 individuals showed high incidences for haemoglobin variants, HbS and HbβT in different ethnic groups, the frequency being varies from 0% - 20% and 0% - 9% respectively. The frequency of HbS in Brahmins is 4.17%, in Kalar 5.41%, in Rajput 2.04%, in Muslims 3.73% in Maratha 2.08% in Bania 9.09% while in Teli it is 3.65%. Among the Scheduled castes and Nomadic tribal groups HbS ranges from 1% ...
Characterization of a hemoglobin variant: HbQ-India / IVS 1-1 [G>T]-β-thalassemia
Indian journal of clinical biochemistry : IJCB, 2010
Hemoglobin Q- India (alpha) 64 Asp → His is an alpha chain variant which is generally found in heterozygous state and presents normal hematological blood picture. Here we report a rare case of HbQ-India with a thalassemic phenotype that has been analyzed using a combination of mass spectrometry, gene sequencing and PCR analysis. This combined analyses revealed the HbQ variant to be associated with a beta chain mutation, IVS 1-1 [G>T]. Though HbQ has earlier been reported with thalassemic trait using different techniques, this is the first report of a compound α and β chain Hb heterozygous mutant involving HbQ and IVS1-1 being validated using Mass Spectrometry and Reverse dot blot hybridization.