[Hemoglobin Haná or alpha 2 beta 2 63 (E7) His-Asn: a new unstable hemoglobin variant with a paradoxically different clinical manifestations in smokers and non-smokers in the same family].
The authors describe the identification and the clinical manifestations of a new structural variant of haemoglobin found in three subjects from two generations of a Moravian family. It is manifested by mild haemolytic anaemia with Heinz bodies in the proband and a slightly elevated value of methaemoglobin. The sequential analysis of the beta-globin gene provided evidence that the cause is mutation CAT-AAT in codon 63 which leads to the exchange of distal histidine /E7/ for asparagine. The ratio of beta X:beta A is 38:62. The mother with the same mutation is asymptomatic. The relative amount of beta X:beta A mRNA transcripts in mother and daughter are equal. This indicates that the clinical differences are not due to a different gene expression. The mother is a heavy smoker with an elevated CO-Hb level that probably protect the mutant against oxidative denaturation and increases thus the stability of Hb-Haná. The authors discuss also the finding of two abnormal stripes assessed by three electrophoretic methods.
Divoký
V
V
Hemato-onkologická klinika FN a LF UP, Olomouc.
Luhový
M
M
Divoká
M
M
Melichárková
R
R
Pospísilová
Indrák
K
K
D000745:Anemia, Hemolytic, Congenital / Q000235:genetics; D002648:Child; D005260:Female; D015870:Gene Expression; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007223:Infant; D008708:Methemoglobinemia / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D017422:Sequence Analysis, DNA; D012907:Smoking / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D005914:Globins
Hemoglobin Haná nebo alpha 2 beta 2 63 (E7) His-Asn: nová nestabilní varianta hemoglobinu s paradoxnĕ rozdílnou klinickou manifestací u kuráků a nekuráků téze rodiny.