Ads
related to: mutation causing sickle cell anemia symptoms- Learn About Treatment
Learn About the Treatment Journey.
Watch the Video to Learn More.
- Patient Information
View Important Patient Information.
Understand the Treatment.
- Patient FAQs
Get Answers to Common Questions.
Understand the Potential Risks.
- Safety and Side Effects
Review the Important Safety
Information & Side Effects.
- Learn About Treatment
Search results
Results From The WOW.Com Content Network
Base-pair substitution that causes sickle cell anemia. The gene defect is a single nucleotide mutation of the β-globin gene, which results in glutamate being substituted by valine at position 6 of the β-globin chain. [62] Hemoglobin S with this mutation is referred to as HbS, as opposed to the normal adult HbA.
The sickle cell trait provides a survival advantage against malaria fatality over people with normal hemoglobin in regions where malaria is endemic. The trait is known to cause significantly fewer deaths due to malaria, especially when Plasmodium falciparum is the causative organism.
As the amount of fetal hemoglobin decreases and hemoglobin S increases, a mild hemolytic anemia appears in the early stage of development. Patients with this disease experience some of the symptoms of sickle cell anemia, including mild-moderate anemia, increased risk of infection, and painful sickling crises. [5]
The mutation is the result of histidine 112 being replaced with aspartic acid in the protein's polypeptide sequence. [1] Additionally, within one of the mutated alpha chains, there are substitutes at 114 and 118, two points on the amino acid chain. [2] This mutation can cause sickle cell anemia. [3]
Hemoglobin C is produced when a point mutation in the HBB gene causes amino acid substitution of glutamic acid to lysine at the 6th position of the β-globin chain of the hemoglobin. The mutation can be homozygous, occurring on both the chromosomes (alleles), or heterozygous, affecting only one allele. [ 1 ]
Mutations can caused impaired production of hemoglobin (thalassemia) or produce structurally altered hemoglobins. Some hemoglobin variants, such as HbS which causes sickle-cell anemia, are responsible for severe diseases and are considered hemoglobinopathies.
Ads
related to: mutation causing sickle cell anemia symptoms