The human genome contains a pair of genes for β-globin; in people with sickle cell disease, both genes are affected and the erythropoietic cells in the bone marrow will only create HbS. In people with sickle cell trait, only one gene is abnormal; erythropoiesis generates a mixture of …

2000年5月1日 · Sickle cell disease is caused by a variant of the beta-globin gene called sickle hemoglobin (Hb S). Inherited autosomal recessively, either two copies of Hb S or one copy of Hb S plus another beta-globin variant (such as Hb C) are required for disease expression. Hb S carriers are protected from mal …

Sickle cell disease is a group of inherited disorders. The specific type of SCD a person has depends on which HBB gene mutations they inherited from their parents. The HBB gene gives instructions for a part of hemoglobin, which is the protein that travels through the blood to deliver oxygen throughout the body. 1

Sickle cell anemia (SCA) is characterized by the homozygosity for hemoglobin S (HbS) and is the most frequent and severe form of the disease. The point mutation of G A G to G T G in the sixth codon of the β (beta) globin gene (HBB), which replaces the glutamic acid for a valine, leading to HbS formation [2].

The sickle hemoglobin (HbS) occurs as a single nucleotide mutation (GAG/GTG) in the sixth codon of the β-globin gene. This missense mutation results in the substitution of valine for the glutamic acid at the sixth residue of the β-globin chain.

Sickle cell disease is caused by inheriting two copies (one from each parent) of an altered HBB gene, which causes the production of an abnormal form of beta (β)-globin, such as hemoglobin S (HbS). Scientists have identified hundreds of variations in the HBB gene that cause abnormal beta-globin to form and cause disease.

2024年11月5日 · Here we report a subtype of sickle cell disease that results from compound heterozygosity of the HbS trait and a de novo beta globin gene mutation, hemoglobin chocowinity, that results in severe sickle cell anemia.

2024年12月17日 · HbS is formed due to the mutation that leads to changing adenine to thymine and forms a new amino acid, valine, from glutamic acid in the HBB gene. Conversion of HbA to HbS leads to altered electrophoretic mobility of the Hb molecule because of the formation of hydrophobic motif, which further facilitates the HbS polymerization during ...

2024年11月5日 · Here we report a subtype of sickle cell disease that results from compound heterozygosity of the HbS trait and a de novo beta globin gene mutation, hemoglobin chocowinity, that results in severe sickle cell anemia. Infant female was born to parents with known HbS trait in the mother and no known hemoglobinopathy in the father.

2024年7月4日 · If a mutated gene with heterozygous advantage against malaria, e.g., hemoglobin S (HbS) gene, is introduced in a small tribe, the gene (allele) frequency (fgene) increases until it reaches a...