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- Title
Clinical and molecular characterization of Hb Hofu in eastern India.
- Authors
Purohit, P.; Mashon, R. S.; Patel, S.; Dehury, S.; Pattanayak, C.; Das, K.; Nair, S.; Italia, K.; Bag, S.; Colah, R.; Patel, D. K.
- Abstract
Introduction Hb Hofu ( HBB:c. 380T>A) is a rare inherited hemoglobin abnormality with few case reports in the world literature. Methods Screening for the sickle cell gene mutation and other hemoglobinopathies was carried out using the sickle slide test, Hb electrophoresis, and HPLC under an ongoing central government project. Results We detected twelve Hb Hofu heterozygotes and three sickle Hb Hofu compound heterozygotes. The heterozygotes were asymptomatic except for one individual who had chronic kidney disease and moderate anemia. Only one Hb S- Hofu case was symptomatic and presented with intermittent attacks of painful crisis. In the carrier state, the Hb Hofu eluted as a hump at the beginning of the Hb A0 window. But in Hb S- Hofu cases, Hb Hofu eluted as a single peak in the Hb A0 window, with the Hb A2 levels being >4% consistently. Conclusion Hb S- Hofu has a variable clinical presentation. The retention time of Hb Hofu on HPLC is very close to that of Hb A0 and often elutes in the A0 window. Thus, there is every possibility of the Hb S- Hofu chromatogram to be misinterpreted as that of a sickle cell trait/transfused sickle cell-beta-thalassemia case. This is the first time where Hb Hofu has been detected by HPLC, which is the widely accepted screening technique for hemoglobinopathies around the world.
- Subjects
INDIA; CARRIER state (Communicable diseases); DIFFERENTIAL diagnosis; GENETIC disorders; HEMOGLOBINS; HEMOGLOBINOPATHY; HIGH performance liquid chromatography; LONGITUDINAL method; RESEARCH funding; DESCRIPTIVE statistics; IN vitro studies
- Publication
International Journal of Laboratory Hematology, 2014, Vol 36, Issue 1, p71
- ISSN
1751-5521
- Publication type
Article
- DOI
10.1111/ijlh.12128