Summary about Disease
Alpha thalassemia is a genetic blood disorder that reduces the production of hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. Reduced hemoglobin leads to a shortage of red blood cells (anemia), which can cause fatigue, weakness, paleness, and other health problems. The severity of alpha thalassemia depends on how many genes are affected. There are four alpha globin genes, and individuals can inherit zero to four defective genes. The more defective genes, the more severe the anemia. Alpha thalassemia is most common in people of Southeast Asian, Chinese, Mediterranean, and African descent.
Symptoms
Symptoms vary depending on the type of alpha thalassemia and the number of affected genes.
Silent Carrier: Usually no symptoms. Individuals are carriers and can pass the gene to their children.
Alpha Thalassemia Trait (Alpha Thalassemia Minor): Mild anemia; may have no noticeable symptoms.
Hemoglobin H Disease: Moderate to severe anemia, fatigue, jaundice (yellowing of the skin and eyes), enlarged spleen, and bone deformities may occur.
Hydrops Fetalis: The most severe form. It usually results in stillbirth or death shortly after birth. Severe anemia, fluid buildup in the body (edema), and enlarged organs are characteristic.
Causes
Alpha thalassemia is caused by mutations in the HBA1 and HBA2 genes, which are involved in making the alpha globin protein, a component of hemoglobin. These genes are located on chromosome 16. The mutations can involve deletions or other changes that reduce or prevent the production of alpha globin. Alpha thalassemia is inherited in an autosomal recessive pattern, meaning both parents must carry the affected gene for a child to be born with the more serious forms of the disease.
Medicine Used
4. Medicine used Treatment depends on the severity of the disease.
Silent Carrier/Alpha Thalassemia Trait: Usually no treatment is needed.
Hemoglobin H Disease:
Folic acid supplements: To help with red blood cell production.
Blood transfusions: To treat severe anemia.
Bone marrow transplant (stem cell transplant): This is a potential cure, but it carries significant risks.
Avoidance of certain medications and oxidative stresses: Certain drugs and infections can worsen anemia. Splenectomy (removal of the spleen) may be considered in some cases.
Hydrops Fetalis: Typically fatal, and treatment is usually not effective. In rare cases, intrauterine transfusions might be attempted.
Is Communicable
No, alpha thalassemia is not communicable. It is a genetic disorder, meaning it is inherited from parents and cannot be spread from person to person through any infectious means.
Precautions
Genetic counseling: If you have a family history of thalassemia or are of a high-risk ethnicity, genetic counseling is recommended before planning a pregnancy.
Prenatal testing: If both parents are carriers, prenatal testing (chorionic villus sampling or amniocentesis) can determine if the fetus has alpha thalassemia.
Avoid iron supplements (unless prescribed): People with thalassemia can develop iron overload, so iron supplements should only be taken if recommended by a doctor.
Avoid oxidative stressors: Certain medications and chemicals can worsen anemia in individuals with hemoglobin H disease.
How long does an outbreak last?
Alpha thalassemia is not an infectious disease and does not have outbreaks. It's a genetic condition present from birth. The severity of symptoms and the need for treatment are lifelong considerations.
How is it diagnosed?
Complete Blood Count (CBC): Shows low hemoglobin and red blood cell count, indicating anemia.
Hemoglobin Electrophoresis or High-Performance Liquid Chromatography (HPLC): These tests identify the types and amounts of hemoglobin present in the blood. This is the primary diagnostic test.
Genetic Testing: Can confirm the diagnosis by identifying mutations in the HBA1 and HBA2 genes.
Red Blood Cell Indices: Measures the size and hemoglobin content of red blood cells, which can provide clues.
Timeline of Symptoms
9. Timeline of symptoms The timeline of symptoms depends on the severity of the disease:
Silent Carrier: No symptoms, so no timeline.
Alpha Thalassemia Trait: Symptoms may be mild and may not be noticed throughout life. Mild anemia might be detected during routine blood tests.
Hemoglobin H Disease: Symptoms typically appear in early childhood, with anemia worsening over time. The timing of other complications (enlarged spleen, bone deformities) can vary.
Hydrops Fetalis: Symptoms are present in utero and lead to stillbirth or death shortly after birth.
Important Considerations
Iron Overload: Repeated blood transfusions can lead to iron overload, requiring chelation therapy to remove excess iron from the body.
Infections: Individuals with Hemoglobin H disease are at increased risk of infections.
Splenectomy: While splenectomy can reduce the need for transfusions, it increases the risk of infections.
Family Planning: Genetic counseling is crucial for couples who are carriers to understand the risk of having a child with alpha thalassemia.
Regular Monitoring: People with alpha thalassemia need regular monitoring by a hematologist to manage their condition and prevent complications.