Haemoglobin Q-Thailand and hereditary spherocytosis in a Chinese family.
A Chinese family with concurrent hereditary spherocytosis (HS) and haemoglobin (Hb) Q-Thailand is described. The Hb Q-Thailand mutation was found on the remaining alpha1 globin gene on a chromosome 16 containing the (-alpha 4.2) deletion. Active haemolysis in members of this family is segregated with the HS phenotype, and the Hb Q-Thailand in the heterozygous state does not seem to show any modulating effect on HS.
Leung
K F
KF
Department of Pathology, The University of Hong Kong, Queen Mary Hospital, Hong Kong, People's Republic of China.
Au
W Y
WY
Chan
A Y
AY
Chan
L C
LC
Waye
J S
JS
Chui
D H
DH
Ma
S K
SK
D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000209:etiology / Q000235:genetics; D002681:China; D005192:Family Health; D005260:Female; D005838:Genotype; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D009679:Nuclear Family; D009996:Osmotic Fragility / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D013103:Spherocytosis, Hereditary / Q000097:blood / Q000150:complications / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C049214:hemoglobin Q Thailand