[Unstable Santa Ana hemoglobin or alpha 2 beta 2 88 (F4) Leu-Pro detected in a Slovak girl].
The unstable haemoglobin variant Ana (alpha 2 beta 2 88 (F4) Leu-Pro) was identified to cause haemolysis in a 10-year-old Slovak girl. She was followed for haemolytic anaemia symptoms since two years of age. Clinical signs are hepatosplenomegaly and moderate haemolytic anaemia not requiring blood transfusions. It is the first case of an unstable haemoglobinopathy found in Slovak Republic as far as we know. Hypothesis of 'de novo' origin of the mutation in the propositus is supported by the parents' and brother's laboratory findings.
Divoký
V
V
Hematologická klinika FN a LF UP, Olomouc.
Hammerová
T
T
Sakalová
A
A
Luhový
M
M
Divoká
M
M
Melichárková
R
R
Indrák
K
K
D000745:Anemia, Hemolytic, Congenital / Q000097:blood* / Q000235:genetics; D001483:Base Sequence; D002648:Child; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation
D006455:Hemoglobins, Abnormal
Nestabilní hemoglobin Santa Ana nebo alpha 2 beta 2 88 (F4) Leu-Pro identifikovaný u slovenské dívky.