Atlas of Hematology

HbQ-India associated with microcytosis: An uncommon hemoglobin variant associated with a common hematologic condition
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 (?64 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.

Authors: Amit Kumar Yadav, Usha Rusia

Keywords: Hb Q India, Hb Q, Hemoglobin varyantları

Year: 2010
Number: 3
Referance No: 42243

Figure 1. HPLC of the patient showing a peak in the unknown window (4.70-4.90 min)
Figure 2. Agarose gel showing the characteristic 370 bp fragment (yellow arrow) in lane 4. Lane 3 - control showing the normal 766 bp fragment (pink arrow), lane 1 - X174 DNA marker fragments and lane 2 - water blank

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