[Unstable Santa Ana hemoglobin or alpha 2 beta 2 88 (F4) Leu-Pro detected in a Slovak girl].

摘要: The unstable haemoglobin variant Ana (alpha 2 beta 88 (F4) Leu-Pro) was identified to cause haemolysis in a 10-year-old Slovak girl. She followed for haemolytic anaemia symptoms since two years of age. Clinical signs are hepatosplenomegaly and moderate not requiring blood transfusions. It is the first case an haemoglobinopathy found Republic as far we know. Hypothesis 'de novo' origin mutation propositus supported by parents' brother's laboratory findings.