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  • Title: Atypical HbH disease in a Surinamese patient resulting from a combination of the -SEA and -alpha 3.7 deletions with HbC heterozygosity.
    Author: Giordano PC, Harteveld CL, Michiels JJ, Terpstra W, Batelaan D, van Delft P, Plug RJ, van der Wielen MJ, Losekoot M, Bernini LF.
    Journal: Br J Haematol; 1997 Mar; 96(4):801-5. PubMed ID: 9074424.
    Abstract:
    The first case of haemoglobin H (HbH) disease in combination with haemoglobin C (HbC) is reported in a man of Surinamese origin. Only haemoglobin A (HbA) and HbC were detected by electrophoresis. The amount of HbC was much less than expected in HbC heterozygotes. The synthesis ratio (beta A+ beta C/alpha) indicated an alpha-thalassaemia defect with two non-functional alpha genes, which did not correlate with the degree of haemolysis and anaemia displayed by the patient. The DNA analysis of the alpha-genes clusters revealed a defect combination -SEA/-alpha 3.7. The haematological data and the physiopathology of this atypical case are compared with the typical HbH disease found in a first cousin of the propositus. Data on the globin chains expression and on the formation of beta A and beta C homotetramers in HbH/HbC disease are presented.
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