[The molecular basis of hereditary persistence of fetal hemoglobin (HPFH). Clinical importance of the hemoglobin switching mechanism with special reference to Corfu delta beta zero thalassemia].
The haemoglobinopathies are a group of autosomal recessively inherited diseases that are common among populations in the Mediterranean, in Africa and large parts of Asia. In Germany, the immigration of people from those parts of the world has resulted in an increased occurrence in particular of beta thalassaemia. Homozygous patients usually become transfusion dependent during the first year of life as the excess of alpha globin chains in the erythroid precursors causes a most severe dyserythropoietic anaemia. Genetic determinants that diminish the alpha globin chain excess are thus clinically significant. Here, we describe the molecular genetic changes that result in an increased gamma globin gene expression and hende in a binding of alpha globin chains as HbF. We discuss the significance of those changes for the clinical course of beta thalassaemia and for the elucidation of the ontogenetic processes of gene regulation during the perinatal haemoglobin switch.
Kulozik
A E
AE
Sektion Molekularbiologie, Abteilung Kinderheilkunde II, Universität Ulm.
Kohne
E
E
Kleihauer
E
E
D004247:DNA / Q000235:genetics*; D005319:Fetal Hemoglobin / Q000235:genetics*; D005809:Genes, Regulator; D005812:Genes, Switch; D005819:Genetic Markers; D006801:Humans; D013789:Thalassemia / Q000235:genetics*
D005819:Genetic Markers; D004247:DNA; D005319:Fetal Hemoglobin
Die molekulare Grundlage der hereditären Persistenz fetalen Hämoglobins (HPFH) und des Hämoglobinschaltmechanismus. Ein Beitrag zur klinischen Bedeutung unter besonderer Berücksichtigung der Corfu-delta beta zero-Thalassämie.