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The molecular basis of HbH disease in Greece
Author(s) -
Tzotzos S.,
Kanavakis E.,
METAXOTOUMAVROMATI A.,
Kattamis C.
Publication year - 1986
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 - 10.1111/j.1365-2141.1986.tb05549.x
Subject(s) - genotype , haplotype , disease , genetics , biology , gene , medicine
Summary. Globin gene mapping in 16 Greek individuals with HbH disease and their parents has demonstrated the occurrence of several HbH genotypes brought about by the interaction of two α + ‐thalassaemia and two α + ‐thalassaemia haplotypes. Eight of the 16 patients had the genotype Med / ‐α 3.7 , four the genotype –(a) 20.5 /–α 3.7 and three the genotype Med /aα T . In one patient the restriction data are consistent with two possible genotypes aα T /α T or /aα T . It is demonstrated that HbH disease in Greece is heterogeneous, with the deletion haplotypes Med and –α 3.7 being more prevalent than the ‐(a) 20.5 and non‐deletion (αα T ) haplotypes.