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Thalassaemia

The discription of th indication the study of disease. It is the bridge between science and medicine. It underpins every aspect of patient care, from diagnostic testing and treatment advice to using cutting-edge genetic technologies and preventing disease.

Overview Of Thalassaemia

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Thalassaemia is a group of inherited blood disorders characterized by abnormal hemoglobin production, leading to the destruction of red blood cells and anemia. Hemoglobin, the protein in red blood cells responsible for oxygen transport, is composed of alpha and beta globin chains. Thalassaemia occurs when mutations in the genes encoding these chains disrupt their synthesis. The condition is classified into two main types: alpha-thalassaemia and beta-thalassaemia, depending on which globin chain is affected. Severity varies widely, from asymptomatic carriers to severe forms requiring lifelong medical care. Thalassaemia major, the most severe form, typically presents in infancy or early childhood and necessitates regular blood transfusions. Thalassaemia is most prevalent in Mediterranean, South Asian, African, and Middle Eastern populations, reflecting its genetic origins in malaria-endemic regions.

Symptoms of Thalassaemia

  • The symptoms of thalassaemia vary depending on the type and severity of the condition. Individuals with thalassaemia minor or trait may be asymptomatic or experience mild anemia. In contrast, thalassaemia major (also called Cooley's anemia) presents with severe symptoms, including profound anemia, fatigue, weakness, and pallor. Children with thalassaemia major may exhibit failure to thrive, delayed growth, and developmental delays. Other symptoms include jaundice, due to increased red blood cell breakdown, and hepatosplenomegaly (enlarged liver and spleen). Bone deformities, particularly in the face and skull, can occur due to bone marrow expansion. Iron overload, resulting from frequent blood transfusions, may lead to additional complications such as diabetes, heart disease, and endocrine disorders.

Causes of Thalassaemia

  • Thalassaemia is caused by mutations in the genes responsible for producing alpha or beta globin chains. These mutations are inherited in an autosomal recessive pattern, meaning that an individual must inherit two defective copies of the gene (one from each parent) to develop the disease. Carriers with one mutated gene typically have mild or no symptoms. Alpha-thalassaemia results from deletions or mutations in the HBA1 and HBA2 genes, while beta-thalassaemia is caused by mutations in the HBB gene. The severity of the condition depends on the number and type of mutations. Environmental factors, such as malaria exposure, have historically influenced the prevalence of thalassaemia, as carriers of the mutation have a survival advantage against malaria.

Risk Factors of Thalassaemia

  • Several factors increase the risk of thalassaemia:
  • Family History: A family history of thalassaemia or carrier status significantly increases the risk.
  • Ethnicity: Individuals of Mediterranean, South Asian, African, or Middle Eastern descent are at higher risk due to the genetic prevalence in these populations.
  • Consanguinity: Marriage between close relatives increases the likelihood of inheriting two copies of the mutated gene.
  • Geographic Origin: People from regions with a high prevalence of malaria, where thalassaemia mutations confer a survival advantage, are more likely to carry the gene.
  • Genetic Mutations: Specific mutations in the HBA or HBB genes determine the type and severity of thalassaemia.

Prevention of Thalassaemia

  • Preventing thalassaemia involves genetic counseling and screening, particularly in high-risk populations. Carrier testing can identify individuals with a single mutated gene, allowing informed family planning decisions. Prenatal diagnosis enables early detection of affected pregnancies, providing options for management or termination. Public health initiatives to raise awareness and promote screening are essential in reducing the incidence of thalassaemia. In regions with a high prevalence, premarital screening programs have been effective in decreasing the birth rate of affected children. Advances in genetic technologies, such as preimplantation genetic diagnosis (PGD), offer additional options for preventing thalassaemia in at-risk families.

Prognosis of Thalassaemia

  • The prognosis for thalassaemia varies widely based on the type and severity of the condition and the availability of treatment. Individuals with thalassaemia minor generally have a normal lifespan and require minimal medical intervention. For those with thalassaemia major, the prognosis has improved significantly with advances in transfusion and chelation therapies, allowing many patients to live into adulthood. However, complications such as iron overload, heart disease, and infections remain significant challenges. Early diagnosis, adherence to treatment, and access to specialized care are critical for improving outcomes. Curative treatments like HSCT and gene therapy offer hope for long-term remission or cure.

Complications of Thalassaemia

  • Thalassaemia can lead to numerous complications, particularly in untreated or poorly managed cases. Chronic anemia can cause fatigue, growth retardation, and delayed puberty. Iron overload, resulting from frequent transfusions, may damage the liver, heart, and endocrine glands, leading to cirrhosis, cardiomyopathy, diabetes, and hypothyroidism. Bone marrow expansion can cause skeletal deformities, osteoporosis, and fractures. Splenomegaly may increase the risk of infections and necessitate splenectomy. Transfusion-related complications, such as alloimmunization or transfusion-transmitted infections, are also concerns. Psychological and social challenges, including the burden of lifelong treatment and stigma, can impact quality of life.

Related Diseases of Thalassaemia

  • Thalassaemia is associated with several related conditions, including:
  • Sickle Cell Disease: Another hemoglobinopathy caused by mutations in the HBB gene, leading to abnormal hemoglobin S.
  • Hemoglobin E Disease: A condition common in Southeast Asia, resulting from a mutation in the HBB gene.
  • Iron Overload Disorders: Such as hereditary hemochromatosis, which shares complications with thalassaemia.
  • Myelodysplastic Syndromes: A group of disorders that can arise from ineffective erythropoiesis and bone marrow dysfunction.
  • Malaria: Thalassaemia carriers historically had a survival advantage in malaria-endemic regions. Understanding these related diseases is crucial for comprehensive management and prevention of thalassaemia.

Treatment of Thalassaemia

The treatment of thalassaemia depends on its severity. Individuals with thalassaemia minor typically require no treatment. For thalassaemia major, regular blood transfusions are the mainstay of therapy to maintain adequate hemoglobin levels and prevent complications. However, frequent transfusions lead to iron overload, necessitating iron chelation therapy with agents like deferoxamine, deferasirox, or deferiprone. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment and is most effective when performed in childhood with a matched donor. Gene therapy, an emerging treatment, aims to correct the underlying genetic defect. Supportive care, including folic acid supplementation and management of complications such as osteoporosis or endocrine disorders, is also essential.

Medications for Thalassaemia

Generics For Thalassaemia

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