Premium
Haemoglobin Manukau β67[E11] Val→Gly: transfusion‐dependent haemolytic anaemia ameliorated by coexisting alpha thalassaemia
Author(s) -
Fay Keith C.,
Brennan Stephen O.,
Costello Jack M.,
Potter Howard C.,
Williamson David A.,
Trent Ronald J.,
Ockelford Paul A.,
Boswell D. Ross
Publication year - 1993
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.1365-2141.1993.tb03178.x
Subject(s) - alpha (finance) , mutation , genotype , medicine , beta (programming language) , hemolytic anemia , gene , biology , genetics , surgery , construct validity , patient satisfaction , computer science , programming language
Summary Haemoglobin Manukau (β67 Val→Gly) is a novel haemoglobin variant presenting in two brothers as non‐spherocytic haemolytic anaemia which became transfusion dependent by 6 months of age. The severity of clinical expression seems to be modulated by coexisting alpha thalassaemia: the severely affected children have a normal complement of alpha globin genes with an unusual genotype (‐α 3,7 /ααα 3,7 ), while their father, who carries the abnormal gene with minimal symptoms, has homozygous α + thalassaemia (‐α 3,7 / ‐α 3,7 ) Another unusual feature of this case is the association of the β67 Val→Gly mutation with modification of β141 Leu to a residue (believed to be hydroxyleucine) that is not detected by standard amino acid analysis. This finding offers an explanation for the previous report of an association of another mutation at this site (Hb Sydney β67 Val→Ala) with Hb Coventry (deletion of β141 Leu).