вот что может быть в вашей семье: плюс дочь/Вы/ родила еще ребенка с мутацией (мутация может быть другая, но тип талассемии бета-ноль похожий)
Investigation of microcytic anemia with normal ferrous status in two members (father and daughter) of a Swiss family originating from Bern revealed high levels of HbA2 (4%, 7.3%) and HbF (3.2%, 3.1%). Direct sequence analysis of asymmetrically amplified DNA showed the ATG-->ACG mutation in the intiation codon of the beta-globin gene. Heterozygous beta-thalassemia was not found in either of the propositus's parents or in any of his brothers and sisters.
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Am J Hematol. 1993 Mar;42(3):248-53.
De novo initiation codon mutation (ATG-->ACG) of the beta-globin gene causing beta-thalassemia in a Swiss family
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