Haemoglobin Q India (alpha 64(E13) aspartic acid histidine) associated with beta-thalassemia observed in three Sindhi families.

Sukumaran, P. K.; Merchant, S. M.; Desai, Mit; Wiltshire, B.; Lehmann, H.

doi:10.1136/jmg.9.4.436

Cited by 64 publications

(24 citation statements)

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“…The first case of HbQ-India was reported by Sukumaran (5) in 1972 in a Sindhi family with associated E-Thalassemia and later by Desai (6). The present study describes the HPLC and molecular findings of HbQ hemoglobinopathy with a concomitant E-Thalassemia case from a 22year old lady who hailed from the state of Uttar Pradesh in North India was referred for comprehensive hematologic investigation, as part of prenatal check up to Manipal Hospital, Bangalore.…”

Section: Introductionmentioning

confidence: 99%

Characterization of a hemoglobin variant: HbQ-India / IVS 1-1 [G>T]-β-thalassemia

Bhat

Dewan²,

Krishnaswamy³

et al. 2010

Indian J Clin Biochem

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Section: Introductionmentioning

confidence: 99%

Characterization of a hemoglobin variant: HbQ-India / IVS 1-1 [G>T]-β-thalassemia

Bhat

Dewan²,

Krishnaswamy³

et al. 2010

Indian J Clin Biochem

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“…Three molecular variant types have been documented, namely HbQIndia [1] (alpha 64 Asp to His), HbQ-Thailand (alpha 74 Asp to His) and HbQ-Iran (alpha 75 Asp to His). Normally, HbQ-India is clinically silent.…”

Section: Discussionmentioning

confidence: 99%

HbQ-India associated with microcytosis: An uncommon hemoglobin variant associated with a common hematologic condition

Yadav

Rusia²

2010

Turk J Hematol

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HbQ-India is a rare alpha chain variant that usually presents in the heterozygous state. Normally, HbQ-India is clinically silent. It becomes symptomatic when present in association with other conditions. We report a case of HbQ-India with concomitant presence of iron deficiency anemia. A 16-year-old female presented with weakness and pallor intermittently for six years. Complete blood count showed severe microcytic hypochromic anemia. Hemoglobin electrophoresis showed a prominent band in the S,D,G region. Tests for sickling were negative. High performance liquid chromatography (HPLC) showed a peak in the unknown window (4.70-4.90 min) suggestive of HbQ-India. Serum iron profile was suggestive of iron deficiency anemia. Based on the above findings, a diagnosis of coexistent HbQ-India-iron deficiency anemia was made. A family study revealed the father as having moderate anemia with similar findings while the mother was normal. Abnormal hemoglobin in the patient was confirmed by molecular diagnosis. HbQ variants are the alpha globin chain variants due to structural mutations (α64 Asp→His) inherited in autosomal dominant fashion. Three molecular variant types have been documented, namely HbQ-India, HbQ-Thailand and HbQ-Iran. Normally, HbQ is clinically silent. Therefore, careful screening of the samples using routine techniques like Hb electrophoresis and HPLC are needed for identification of such abnormal hemoglobin variants like HbQ-India. (Turk J Hematol 2010; 27: 200-3) Key words: HbQ-India, HbQ, hemoglobin variants

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Section: Introductionmentioning

confidence: 99%

“…4,5 HbQ-India is usually seen in the heterozygous form which is clinically silent not having deleterious phenotypic effect. 4 The major clinical significance of HbQ is its correct diagnosis. The identification of hemoglobin variants by conventional techniques are often presumptive, based on ethnic origin of the parents and the quantification of electrophoretic mobility of the band.…”

Section: Introductionmentioning

confidence: 99%

HBQ-India: an uncommon hemoglobin variant

et al. 2018

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Background: HbQ-India is a rare alpha chain variant. It is an important member of the hemoglobin Q family molecularly characterized by replacement of aspartic acid by histidine. It usually presents in the heterozygous state. It becomes symptomatic only in the homozygous state and when present in association with other conditions like beta-thalassaemia, alpha thalassaemia, HbE and HbH. The Sindhi is one of the largest linguistic communities, migrated about 65 years back from the Sindh province of west Pakistan to India. They are a high-risk community for beta thalassaemia gene in India with a carrier frequency ranging from 5 to 12 % with a distinct regional variability.Methods: A total 343 cases were screened for hemoglobinopathies in Sindhi population. Detail history was taken from each patient and pertinent physical finding were noted. CBC, Peripheral smear and HPLC were performed. During screening we observed that few samples showed an unknown peak at a retention time of 4.7 min on HPLC and comparison with reference chromatograms indicated them to be HbQ India and it is confirmed by amplification restriction mutation system polymerase chain reaction (ARMS-PCR).Results: We found 13 cases, 12 cases of HbQ India and 1 case of HbQ-beta thalassaemia in Sindhi population of Aurangabad in Maharashtra.Conclusions: India is known as a country with a high prevalence of different types of hemoglobinopathy. Now a days HPLC, IEF, ARMS-PCR, DNA sequencing are the methods available for the diagnosis of the abnormal Hb like HbQ-lndia. HPLC is a cheaper alternative to ARMS-PCR in the detection of rare hemoglobinopathies.

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Haemoglobin Q India (alpha 64(E13) aspartic acid histidine) associated with beta-thalassemia observed in three Sindhi families.

Cited by 64 publications

References 11 publications

Characterization of a hemoglobin variant: HbQ-India / IVS 1-1 [G>T]-β-thalassemia

Characterization of a hemoglobin variant: HbQ-India / IVS 1-1 [G>T]-β-thalassemia

HbQ-India associated with microcytosis: An uncommon hemoglobin variant associated with a common hematologic condition

HBQ-India: an uncommon hemoglobin variant

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