1.
Hemoglobin
; 42(2): 141-142, 2018 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29651865
RESUMO
While knowledge of HBB gene mutations is necessary for offering prenatal diagnosis (PND) of ß-thalassemia (ß-thal), a genotype-phenotype correlation may not always be available for rare variants. We present for the first time, genotype-phenotype correlation for a compound heterozygous status with IVS-I-5 (G>C) (HBB: c.92+5G>C) and HBB: c.407C>T (Hb Alperton) mutations on the HBB gene in an Indian family. Hb Alperton is a very rare hemoglobin (Hb) variant with scant published information about its clinical presentation, especially when accompanied with another HBB gene mutation. Here we provide biochemical as well as clinical details of this variant.