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Clinical and molecular characterization of H b H ofu in eastern I ndia
Author(s) -
Purohit P.,
Mashon R. S.,
Patel S.,
Dehury S.,
Pattanayak C.,
Das K.,
Nair S.,
Italia K.,
Bag S.,
Colah R.,
Patel D. K.
Publication year - 2014
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/ijlh.12128
Subject(s) - high performance liquid chromatography , chemistry , chromatography
Summary Introduction H b H ofu ( 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, H b electrophoresis, and HPLC under an ongoing central government project. Results We detected twelve Hb Hofu heterozygotes and three sickle H b H ofu compound heterozygotes. The heterozygotes were asymptomatic except for one individual who had chronic kidney disease and moderate anemia. Only one H b S ‐ H ofu case was symptomatic and presented with intermittent attacks of painful crisis. In the carrier state, the H b H ofu eluted as a hump at the beginning of the H b A 0 window. But in H b S ‐ H ofu cases, H b H ofu eluted as a single peak in the H b A 0 window, with the H b A 2 levels being >4% consistently. Conclusion H b S ‐ H ofu has a variable clinical presentation. The retention time of H b H ofu on HPLC is very close to that of H b A 0 and often elutes in the A 0 window. Thus, there is every possibility of the H b S ‐ H ofu chromatogram to be misinterpreted as that of a sickle cell trait/transfused sickle cell‐beta‐thalassemia case. This is the first time where H b H ofu has been detected by HPLC , which is the widely accepted screening technique for hemoglobinopathies around the world.