Related Experiment Video
Updated: Jan 11, 2026
07:24
A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
1.9K
Sickle Cell Disease and Hemoglobin S Prevalence in Botswana
Setho Ruth Taboka Kgakatsi1, Somolekae Katlego Galetlale2, Leabaneng Tawe1,2
1Botswana-University of Pennsylvania Partnership, Gaborone, Botswana.
Pediatric Blood & Cancer
|November 17, 2025
Summary
The sickle cell trait (Hb-AS) was found in 1.9% of children in Botswana, with an S allele frequency of 0.0094. This indicates sickle cell disease is a potential contributor to chronic hemolytic disorders in the region.
Area of Science:
- Genetics
- Hematology
- Epidemiology
Background:
- Sickle cell disease is an inherited blood disorder caused by a mutation in the beta-globin gene.
- Sickle cell trait offers protection against severe malaria.
- The frequency of the sickle cell (HbS) allele in Botswana was previously unknown.
Purpose of the Study:
- To determine the frequency of the HbS allele in the Ngami and Okavango health districts of Botswana.
- To assess the potential public health implications of sickle cell disease in Botswana.
Main Methods:
- Analysis of residual DNA samples from asymptomatic children.
- Detection of HbS allele using PCR-restriction fragment length polymorphism (PCR-RFLP).
Main Results:
- 159 children's DNA samples were analyzed.
- Sickle cell trait (Hb-AS) was present in 1.9% of subjects.
- The overall frequency of the S allele was 0.0094; no homozygous sickle cell (Hb-SS) cases were found.
Conclusions:
- The S allele is present in Botswana at a low frequency.
- Sickle cell disease may contribute to chronic hemolytic disorders in Botswana.
- Further research is needed to understand the full impact of sickle cell in Botswana.
Related Concept Videos
01:49Multiple Allele Traits
37.9K
The Concept of Multiple Allelism
37.9K
01:11Genome-wide Association Studies-GWAS
15.3K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
15.3K
01:05Single Nucleotide Polymorphisms-SNPs
17.9K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
17.9K
01:24Hemoglobin
7.3K
Hemoglobin is a globular protein made up of four subunits. Two of these subunits are alpha chains, and the other two are beta chains. Each subunit contains a molecule of heme, which has an iron atom and can bind to oxygen. When an oxygen molecule binds to one heme group, it changes the shape of hemoglobin, making it easier for the other heme groups to bind oxygen as well.
When all four heme groups are bound to oxygen, the resulting molecule is called oxyhemoglobin. As a result, arterial blood...
When all four heme groups are bound to oxygen, the resulting molecule is called oxyhemoglobin. As a result, arterial blood...
7.3K
02:20Blood Types
22.2K
Human blood is classified into different types based on the presence of antigens on the red blood cell's surface and antibodies in the plasma. Proper identification of blood type is essential for successful blood transfusion. The International Society of Blood Transfusion has identified 38 human blood types based on the surface antigens on the red blood cells. The most common types are ABO, Rh, and MNS blood types.
ABO blood group
ABO antigens are glycoproteins encoded by genes present on...
ABO blood group
ABO antigens are glycoproteins encoded by genes present on...
22.2K
01:27Disorders of Erythrocytes
2.0K
Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
2.0K