A rare gene variation cap +1 (A>C) (HBB: c. −50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

An Examination of the HBB Gene in Various African Populations

Malarial resistance serves as a prime example of how infectious disease and parasite loads have affected human evolutionary biology. Claiming over 1 million deaths worldwide every year, malaria's wide and severe effects on the human condition are undeniably strong. However, studies on populations existing in malaria endemic areas have revealed numerous biological adaptations that confer resista...

HBB FSC 36-37 (-T) Gene Mutation Detection in Carriers of Thalassemia Minor Using High Resolution Melting Analysis

Beta-thalassemia is one of the most common autosomal recessive disorders in the world population resulting from over 200 different mutations of HBB gene. Beta-thalassemias are caused by point mutations or, more rarely, deletions in the HBB gene leading to reduced (beta+) or absent (beta0) synthesis of the beta chains of hemoglobin (Hb). High-resolution melting of polymerase chain reaction (PCR)...

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia

Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...

Does the c.-273T>C variant in the upstream region of the HBB gene cause a thalassemia phenotype?

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