Characterization of a hemoglobin variant: HbQ-India / IVS 1-1 [G>T]-β-thalassemia (original) (raw)
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The current work focuses on two rare hemoglobin (Hb) variants -Hb Grange-Blanche and Hb Hofu -found for the first time in association with α-thalassemia in Eastern India. The unusual case of Hb Grange-Blanche and FS 41/42(-CTTT) mutations in cis throws light on importance of multiple mutations and its coinheritance with ααα anti3.7 triplication indicates a possible cause for the clinical severity in β-thalassemia carriers.
Hemoglobin, 2019
This study reports the case of 2-year-old Northeastern Thai girl with b-thalassemia (b-thal) disease who has required regular blood transfusions since she was 8 months old. Hemoglobin (Hb) analysis by high performance liquid chromatography (HPLC) separated Hb A 2 /E (16.5%), Hb F (22.7%), Hb A (51.8%) and an abnormal peak (Hb X) found at a retention time (RT) of 5.05 min. (C-window) with 2.8%. Multiplex gap-polymerase chain reaction (gap-PCR) revealed heterozygous a-thalassemia-2 (a-thal-2) (-a 3.7 /aa; NG_000006.1: g.34164_37967 del3804). This patient was suspected of having a b-globin chain variant and Hb E (HBB: c.79G>A) according to the high Hb F level and disease presentations. Surprisingly, Hb Mahasarakham (the geographic origin of the proband), a novel single nucleotide deletion (-G) at the first nucleotide of codon 121 (HBB: c.364delG), was identified by direct DNA sequencing and secondary confirmation by PCR-restriction fragment length polymorphism (PCR-RFLP). This novel mutation causes a frameshift mutation and added 10 more residues to the b-globin chain that was elongated to 156 amino acids. Molecular basis of this novel mutation in the heterozygous state is required to confirm the mode of inheritance.
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.
Co-inheritance of HbD Iran/Beta Thalassemia IVS1–5 (G > C) Trait in a Punjabi Lady with Diabetes
Indian Journal of Clinical Biochemistry, 2012
The present report describes the molecular study of HbD Iran (beta) 22 Glu ? Gln associated with b-Thalassemia IVS1-5 (G [ C) found in India, and the first case in which mutation has been identified using mass spectrometry. Given the apparent ethnic origin and the mobility of the variant hemoglobin at alkaline pH, hemoglobin D-Punjab would be suspected, but HPLC excluded this possibility. Further characterization of hemoglobinopathy was made by using nondenaturing gel electrophoresis and matrix assisted laser desorption ionization mass spectrometry and IVS1-5 being validated by reverse dot blot hybridization followed by sequencing of the b-globin gene.
Mutational Studies of Gene HBB in β-Thalassemia Patients from Balochistan, Pakistan
Current Trends in OMICS, 2021
Thalassemia is a hereditary blood disorder. It occurs due to two mutations in the HBB gene located on chromosome 11. This gene has 1606 base pairs and contains three exons. Moreover, HBB gene codes for β globin protein have been identified to posses 868 mutations, which comprise point mutation, insertion, deletion, and gene arrangement. In β thalassemia major, both alleles are mutated and no β chain is synthesized. In this study, three human families with thalassemia were selectedfrom different areas of Balochistan. For DNA extraction and estimation, 5 ml blood samples were extracted intravenously from the affected individuals, their normal siblings, and parents in 15ml falcon tubes containing 200μl EDTA. Primer sequences were designed on primer 3 for the mutational analysis of the HBB gene. Since the gene has a total of three exons and two introns, three primers, namely HBBX1, HBBX2 and HBBX3, were designed. These primers were used to amplify the HBB gene responsible for β thalasse...
β-Thalassemias : Expression, molecular mechanisms and mutations in Indians
The Indian Journal of Pediatrics, 1998
The 13-thalassemias are a heterogenous group of inherited disorders of hemoglobin (Hb) synthesis characterized by a reduction (1~ +) or absence (1~ o) of synthesis of the 13 globin chains of Hb, resulting in an imbalanced chain synthesis. To understand their expression and molecular basis in Indians, it is essential to review briefly the genetic control of normal Hb production and the structure, organization and regulation of different globin genes. The Indian l~-thalassemia mutations and strategies for prevention are described.