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Atypical HbH disease in a Surinamese patient resulting from a combination of the −SEA and −α 3.7 deletions with HbC heterozygosity
Author(s) -
GIORDANO P. C.,
HARTEVELD C. L.,
MICHIELS J. J.,
TERPSTRA W.,
BATELAAN D.,
VAN DELFT P.,
PLUG R. J.,
VAN DER WIELEN M. J. R.,
LOSEKOOT M.,
BERNINI L. F.
Publication year - 1997
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1997.d01-2093.x
Subject(s) - loss of heterozygosity , disease , medicine , pathology , genetics , biology , gene , allele
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 (β A +β C /α) indicated an α‐thalassaemia defect with two non‐functional α genes, which did not correlate with the degree of haemolysis and anaemia displayed by the patient. The DNA analysis of the α‐genes clusters revealed a defect combination −SEA/−α 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 β A and β C homotetramers in HbH/HbC disease are presented.