title: [Unstable Santa Ana hemoglobin or alpha 2 beta 2 88 (F4) Leu-Pro detected in a Slovak girl].
abstract: 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.
authors.affiliation: Hematologická klinika FN a LF UP, Olomouc.
authors.forename: V
authors.initials: V
authors.lastname: Divoký
authors.forename: T
authors.initials: T
authors.lastname: Hammerová
authors.forename: A
authors.initials: A
authors.lastname: Sakalová
authors.forename: M
authors.initials: M
authors.lastname: Luhový
authors.forename: M
authors.initials: M
authors.lastname: Divoká
authors.forename: R
authors.initials: R
authors.lastname: Melichárková
authors.forename: K
authors.initials: K
authors.lastname: Indrák
mesh_terms: 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
chemical_list: D006455:Hemoglobins, Abnormal
vernacular_title: Nestabilní hemoglobin Santa Ana nebo alpha 2 beta 2 88 (F4) Leu-Pro identifikovaný u slovenské dívky.