title: Atypical HbH disease in a Surinamese patient resulting from a combination of the -SEA and -alpha 3.7 deletions with HbC heterozygosity.
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.
authors.affiliation: MGC-Department of Human Genetics, Leiden University, The Netherlands.
authors.forename: P C
authors.initials: PC
authors.lastname: Giordano
authors.forename: C L
authors.initials: CL
authors.lastname: Harteveld
authors.forename: J J
authors.initials: JJ
authors.lastname: Michiels
authors.forename: W
authors.initials: W
authors.lastname: Terpstra
authors.forename: D
authors.initials: D
authors.lastname: Batelaan
authors.forename: P
authors.initials: P
authors.lastname: van Delft
authors.forename: R J
authors.initials: RJ
authors.lastname: Plug
authors.forename: M J
authors.initials: MJ
authors.lastname: van der Wielen
authors.forename: M
authors.initials: M
authors.lastname: Losekoot
authors.forename: L F
authors.initials: LF
authors.lastname: Bernini
mesh_terms: 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
chemical_list: D006447:Hemoglobin H