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Codon 104(-G), a dominant beta0-thalassemia-like phenotype in a German Caucasian family is associated with mild chronic hemolytic anemia but influenced in severity by co-inherited genetic factors.
- Source :
-
Haematologica [Haematologica] 2007 Sep; Vol. 92 (9), pp. 1264-5. - Publication Year :
- 2007
-
Abstract
- Codon 104(-G), a heterozygous frameshift mutation in exon 2 of HBB, resulted in a dominantly inherited beta0-phenotype with mild anemia in a German kindred, and thalassemia intermedia in the index patient. A co-inherited a gene triplication, long-term transfusion therapy, and ineffective erythropoiesis were confounding factors.
- Subjects :
- Adult
Aged
Aged, 80 and over
Blood Transfusion
Erythropoiesis
Female
Genes, Dominant
Germany
Hepatomegaly etiology
Heterozygote
Humans
Iron Overload
Male
Pedigree
Phenotype
Splenomegaly etiology
White People
beta-Thalassemia diagnosis
beta-Thalassemia therapy
Anemia, Hemolytic genetics
Codon
Frameshift Mutation genetics
Globins genetics
beta-Thalassemia genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1592-8721
- Volume :
- 92
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- Haematologica
- Publication Type :
- Editorial & Opinion
- Accession number :
- 17768122
- Full Text :
- https://doi.org/10.3324/haematol.11383