What is the most common genetic abnormality of beta-globin genes in Africa?
In sickle cell anemia (also called homozygous sickle cell disease), which is the most common form of sickle cell disease, hemoglobin S replaces both beta-globin subunits in hemoglobin.
How many human beta-globin genes are there?
The human β-globin locus spans approximately 70 kb and contains five genes, each with its own promoter, arranged in the order: ∊, Gγ, Aγ, δ, and β.
Is thalassemia more common in males or females?
Male patients were more frequently affected than females (92.3% vs. 88.0% in the spine and 88.5% vs. 82% at the femoral neck). Hypogonadal patients were found to be more frequently affected compared to eugonadal patients (94.1% in spine and 88.2% cyat the femoral neck compared to 89.5% and 81.6% respectively).
Which human globin gene has a Paralogue that occurred by gene duplication in humans?
The human α-like globin gene cluster resides on the telomeric region of chromosome 16. The HBA2 and HBA1 genes are paralogues, i.e., set of homologous genes that have evolved from gene duplication and can be associated with a subsequent divergence of function.
Where is beta globin gene located?
The human β-globin locus is composed of five genes located on a short region of chromosome 11, responsible for the creation of the beta parts (roughly half) of the oxygen transport protein Haemoglobin.
Why is sickle cell more common in African American?
So why are African Americans Affected More? SCD and SCT impact African Americans at disproportionate rates. This is simply because they both are evolutionary traits that individuals develop in response to help protect them from malaria. Around 50% of the global population live in areas where malaria exists.
What race is thalassemia most common in?
Certain ancestry. Thalassemia occurs most often in African Americans and in people of Mediterranean and Southeast Asian descent.
What percentage of Asians have thalassemia?
Southeast Asia: 1-30% of the population has a thalassemia trait, with up to 40% of this population potentially being genetic carriers.
What does haplotype diversity tell you?
Haplotype diversity (also known as gene diversity) represents the probability that two randomly sampled alleles are different, while nucleotide diversity Is defined as the average number of nucleotide differences per site in pairwise comparisons among DNA sequences .
Are human beta globin and alpha globin paralogs?
What are orthologous and paralogous genes?
“By definition, orthologs are genes that are related by vertical descent from a common ancestor and encode proteins with the same function in different species. By contrast, paralogs are homologous genes that have evolved by duplication and code for protein with similar, but not identical functions.”
How many people have hemoglobinopathies?
With approximately 7% of the worldwide population being carriers, hemoglobinopathies are the most common monogenic diseases and one of the world’s major health problems (1, 2, e1, e2).
How is thalassemia inherited?
To be born with the main type of thalassaemia, beta thalassaemia, a child has to inherit a copy of the faulty beta thalassaemia gene from both of their parents. This usually happens when both parents are “carriers” of the faulty gene, also known as having the “thalassaemia trait”.
Can a white person get sickle cell?
Sickle cell disease affects millions of people around the world. While it’s very common in people of African heritage, people of other races and ethnicity can also inherit the condition. For example, white people can get sickle cell disease.
What race has beta thalassemia?
Beta thalassemia most often affects people who are of Mediterranean (Greek, Italian and Middle Eastern), Asian, or African descent.
How many alleles have the Ben haplotype?
This was a total 490 alleles investigated, of which 426 alleles had the BEN haplotype (86.9%); 19 had the SEN haplotype (3.9%); 31 had the CAM haplotype (6.3%); five had the BAN/Central African Republic haplotype (CAR) (1.0%); and nine had atypical haplotypes (1.8%).
Do haplotypes affect haematological parameters?
No significant correlation was observed between the various haplotypes and the haematological parameters, although the BEN/SEN haplotype showed an improved haematological profile with a three-fold likelihood of increased Hb levels and a two-fold likelihood of reduced RDW compared with the other haplotypes.
What is the most common haplotype in humans?
Among the most prevalent haplotype combinations was homozygous BEN/BEN accounting for 182 of 245 (74.3%), heterozygous BEN/CAM and BEN/SEN with 30 of 245 (12.2%) and 19 of 245 (7.8%), respectively. The least prevalent haplotypes included BEN/atypical (ATY) in eight of 245 (3.3%), BEN/CAR in five of 245 (2.0%) and ATY/CAM in one of 245 (0.4%).
What are the least prevalent haplotypes of hemophilia A?
The least prevalent haplotypes included BEN/atypical (ATY) in eight of 245 (3.3%), BEN/CAR in five of 245 (2.0%) and ATY/CAM in one of 245 (0.4%). In 13 of 182 BEN/BEN patients and one of 19 BEN/SEN patients complete haematological and/or clinical data were not available.