3A50.03
category
Hemoglobin Bart's fetalis syndrome
Definition
Homozygous or compound heterozygous alpha⁰ thalassaemia refers to a genetic condition where a person has no functional alpha-globin genes due to either: Homozygosity for an alpha⁰ (α⁰) deletion, or Compound heterozygosity for two different alpha⁰ deletions. α⁰ (alpha-zero) thalassaemia means both alpha-globin genes on one chromosome are deleted: written as: (—) So: Homozygous alpha⁰ thalassaemia = (—/—) resulting in no functional alpha-globin genes at all. Compound heterozygous alpha⁰ thalassaemia = (—/—), but each — comes from a different deletion or mutation, still results in complete loss of alpha-globin production.
Also indexed as
BHFS - [Bart's hydrops fetalis syndrome]HBHF - [Hb Bart's hydrops fetalis]Haemoglobin Bart's diseaseHb Bart's hydrops fetalisHb Bart's hydrops fetalis syndromeHemoglobin Bart's fetalis syndromealpha thalassaemia hydrops fetalisalpha-thalassemia majorhaemoglobin Bart hydrops fetalishomozygous alpha0-thalassemia