Atypical HbH disease in a Surinamese patient resulting from a combination of the -SEA and -alpha 3.7 deletions with HbC heterozygosity.
Br J Haematol
; 96(4): 801-5, 1997 Mar.
Article
en En
| MEDLINE
| ID: mdl-9074424
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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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Hemoglobina H
/
Eliminación de Gen
/
Hemoglobinopatías
/
Heterocigoto
Límite:
Adult
/
Humans
/
Male
País/Región como asunto:
America do sul
/
Caribe ingles
/
Suriname
Idioma:
En
Revista:
Br J Haematol
Año:
1997
Tipo del documento:
Article
País de afiliación:
Países Bajos
Pais de publicación:
Reino Unido