Atypical HbH disease in a Surinamese patient resulting from a combination of the -SEA and -alpha 3.7 deletions with HbC heterozygosity.
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.
Giordano
P C
PC
MGC-Department of Human Genetics, Leiden University, The Netherlands.
Harteveld
C L
CL
Michiels
J J
JJ
Terpstra
W
W
Batelaan
D
D
van Delft
P
P
Plug
R J
RJ
van der Wielen
M J
MJ
Losekoot
M
M
Bernini
L F
LF
D000328:Adult; D004592:Electrophoresis, Starch Gel; D017353:Gene Deletion; D006445:Hemoglobin C Disease / Q000150:complications / Q000235:genetics; D006447:Hemoglobin H / Q000235:genetics*; D006453:Hemoglobinopathies / Q000150:complications / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D017085:alpha-Thalassemia / Q000150:complications / Q000235:genetics
D006447:Hemoglobin H