Hemolytic anaemia due to unstable hemoglobin arising from spontaneous mutation--a case report.
9 years old male child presented clinically with thalassaemia intermedia phenotype. Investigations revealed hemolytic anaemia due to an unstable hemoglobin. Parents were found negative for the abnormal hemoglobin, suggesting a spontaneous mutation in the child. This is the third case of unstable hemoglobin to be reported from India. Clinically it is important that unstable hemoglobin should be suspected in a patient with thalassaemia intermedia phenotype even if both parents are haematologically normal.
Dash
Sumitra
S
Department of Haematology, Postgraduate Institute of Medical Education and Research, Chandigarh. sumitradash2001@yahoo.com
Menon
Santosh
S
Marwaha
R K
RK
D000745:Anemia, Hemolytic, Congenital / Q000097:blood / Q000235:genetics*; D002648:Child; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007194:India; D008297:Male; D009154:Mutation; D010641:Phenotype; D013789:Thalassemia / Q000097:blood / Q000235:genetics
D006455:Hemoglobins, Abnormal