Coinheritance of alpha-thalassemia-1 and hemoglobin E/beta zero-thalassemia: practical implications for neonatal screening and genetic counseling.
case_report · Level V
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Abstract
Hemoglobin E (HbE), alpha-thalassemia, and beta-thalassemia are common among Southeast Asians and often occur in compound heterozygous states that complicate neonatal screening. We describe a kindred with alpha-thalassemia-1, HbE, and beta zero-thalassemia. The proband had HbE/beta zero-thalassemia, with severe anemia and failure to thrive. His father also had HbE/beta zero-thalassemia but had coinherited alpha-thalassemia-1 and was free of symptoms.
Medical subject headings
- Adult
- Asia, Southeastern
- Asia, Southeastern/ethnology
- Child, Preschool
- Female
- Genetic Counseling
- Genotype
- Hemoglobin E
- Hemoglobin E/genetics
- Heterozygote
- Humans
- Infant, Newborn
- Male
- Neonatal Screening
- alpha-Thalassemia
- alpha-Thalassemia/complications
- alpha-Thalassemia/ethnology
- alpha-Thalassemia/genetics
- beta-Thalassemia
- beta-Thalassemia/complications
- beta-Thalassemia/ethnology
- beta-Thalassemia/genetics