Disease_Mapped_To_Gene
Pediatric Hematology-Oncology Terminology
Thalassemia
S-Beta Thalassemia
A disorder characterized by the body's inability to synthesize beta-globin chains, leading to the formation of abnormal hemoglobin and anemia. This inherited autosomal recessive blood disorder is caused by germline mutation of the HBB gene.
A heterozygous state in which a person has a loss of function mutation in one beta globin allele together with a hemoglobin S allele.
C2825560
C81288
Disease or Syndrome
NICHD
S-Beta Thalassemia
S-Beta Thalassemia
S-Beta_Thalassemia
HBB Gene
Newborn Screening Terminology
NICHD Terminology