Only 1.7 percent of the global population possesses beta thalassemia trait, despite the fact that about 5% of the global population has a globin variation. Men and women are equally affected by thalassemia, which affects about 4.4 out of every 10,000 live births. People of Mediterranean, African, and Southeast Asian origin are more likely to have beta thalassemia. The thalassemia gene affects 5 to 30% of people in various ethnic groups.
WHAT IS BETA THALASSEMIA TRAIT
Beta thalassemia is caused by a lack of or inability to synthesise beta globin chains, resulting in an overabundance of alpha chains. One gene on each chromosome 11 regulates beta globin production. More than 200 point mutations and (occasionally) deletions of the two genes can cause beta thalassemia. The synthesis of beta globin chains can range from near normal to entirely missing, resulting in various degrees of excess alpha globin to beta globin chain production. Beta thalassemia trait (minor) is an asymptomatic gene abnormality that causes microcytosis and moderate anemia.
The degree of imbalance between the alpha and non-alpha globin chains determines the disease progression of beta-thalassemia. The gamma chains, which are a particular component of foetal Hb (HbF; alpha2 gamma2) and are present in a minor quantity in normal adult persons and in larger but variable amounts in beta-thalassemia syndromes, are included in the non alpha globin chains, in complement to the beta globin chains.
Because of the presence of HbF, people with beta thalassemia major are usually never symptomatic at birth, although symptoms appear about 6 months of age. The individual has beta thalassemia intermedia if the synthesis of beta chains has become less severely decreased. These people have milder symptoms and do not require lifetime blood transfusions to live past the age of 20.
what are the symptoms of beta thalassemia
The global yearly occurrence of symptomatic persons is estimated to be 1 in 100,000, including 1 in 10,000 people living in the European Union. Thalassemia major, thalassemia intermedia, and thalassemia minor are the three primary types.
Despite the fact that thalassemia minor has no symptoms, it might cause moderate anaemia in certain individuals.
Carriers of thalassemia minor are usually asymptomatic, however they may have mild anaemia. During each pregnancy, there is a 25% risk of having kids with homozygous thalassemia if both parents are carriers.
Jaundice, stomach pain, and hepatosplenomegaly were shown to be prevalent symptoms in individuals with symptomatic beta thalassemia trait in a case study, with 20-25 percent of patients reporting these symptoms. Abdominal pain and edoema were other common complaints.
beta thalassemia treatment
Splenectomy and folic acid supplements are used to treat thalassemia patients' symptoms. Radiotherapy, transfusions, and, in certain circumstances, hydroxyurea are used to treat extramedullary erythropoietic masses.
Hydroxyurea also increases the number of globin gamma chains, and it may have unintended consequences. Chelation treatment is initiated when the serum ferritin content exceeds 300 g/L, since increased gastrointestinal absorption of iron or transfusions may produce iron overload in individuals with thalassemia.
- On a regular basis, transfusions are administered.
- Prescription medications
- The spleen is surgically removed.
- Folic acid supplements should be consumed on a daily basis.
- The gallbladder can be surgically removed.
- There should be no iron supplements supplied.
- Transplantation of bone marrow
Diagnosis of Beta thalassemia
Hematologic and molecular genetic tests are used to diagnose thalassemia. Genetic sideroblastic anemias, congenital dyserythropoietic anemias, and other diseases with high HbF levels may be included in the differential diagnosis. Prenatal diagnostics and genetic counselling are both indicated. Regular RBC transfusions, iron chelation, and care of secondary consequences of iron overload are all part of the treatment for thalassemia major.
thalassemia beta pregnancy
Hemolytic alloantibodies and erythrocyte autoantibodies can develop in women who have never or just had minor blood transfusions during pregnancy.
During each pregnancy, there is a 25% risk of producing children with homozygous thalassemia if both parents are carriers.
At the moment of conception, each child of heterozygotes parents has a 25% chance of being afflicted, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not carrier. The proband's parents have a 1 in 4 (25 percent) risk of having additional affected children with each pregnancy.
Pregnant thalassemia patients require a comprehensive approach including all professionals involved in thalassemia medical treatment.
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