Inheriting a blood disorder called alpha thalassemia, it affects the production of hemoglobin, the protein that carries oxygen in red blood cells. Each of the four protein chains in hemoglobin contains genetic information that determines how much and what type of hemoglobin the body produces.
In alpha thalassemia, one or more of the four genes that make alpha globin chains are mutated or deleted. Alpha thalassemia is inherited from both parents. If one parent has a mutation or deletion in one of these genes, they are carriers. Their child can inherit the abnormal gene from them.
There is a 25% chance of having an affected child if both parents are carriers of alpha thalassemia. The severity of the condition depends on how many genes are mutated or deleted and how much hemoglobin is produced.
The symptoms of alpha thalassemia vary depending on the type and severity of the condition. Some people may have no symptoms at all, while others may experience:
Fatigue
Weakness
Shortness of breath
Pale skin
Cold intolerance
Frequent infections
Growth delay
Bone deformities (especially in the face)
Dark urine
Some people with severe alpha thalassemia may develop complications such as:
Iron overload (a condition where excess iron builds up in the body and can damage organs)
Heart problems (such as enlarged heart or heart failure)
Liver problems (such as cirrhosis or liver failure)
Kidney problems (such as kidney failure or kidney stones)
Bone problems (such as osteoporosis or bone fractures)
To diagnose alpha thalassemia, a doctor will take a blood sample from the person and test it for:
Anemia: a condition where there are not enough healthy red blood cells to carry oxygen to the tissues.
Abnormal hemoglobin: a condition where there is an abnormal form of hemoglobin that does not function properly.
Abnormally shaped red blood cells: a condition where the red blood cells have an irregular shape due to reduced production or destruction.
The doctor may also perform other tests such as:
Genetic testing: a test that analyzes the DNA for mutations or deletions in the alpha globin genes.
Hemoglobin electrophoresis: a test that separates different types of hemoglobin molecules using an electric current.
Fetal hemoglobin test: a test that measures the amount of fetal hemoglobin (a type of hemoglobin produced by fetuses) in adults with severe alpha thalassemia.
There is no cure for alpha thalassemia, but treatment can help manage the symptoms and prevent complications. Treatment options include:
Blood transfusions: procedures that replace some or all of the person’s blood with donor blood to increase their red blood cell count and improve their oxygen delivery.
Iron chelation therapy: procedures that remove excess iron from the body using medications such as deferoxamine or deferiprone.
Folic acid supplements: supplements that provide folic acid (a vitamin that helps make new red blood cells) to prevent anemia and birth defects.
Bone marrow transplant: procedures that replace damaged bone marrow with healthy bone marrow from a donor to restore normal production of red blood cells.
Gene therapy: experimental treatments that aim to correct or replace defective genes using viruses or other methods.
The best way to prevent alpha thalassemia is to avoid passing on an abnormal gene to your child. This can be done by:
Knowing your genetic status and carrier status before having children.
Taking prenatal tests during pregnancy to detect any abnormalities in your baby’s genes.
Seeking genetic counseling before and after pregnancy to discuss your options and risks.
Avoiding unnecessary invasive procedures such as amniocentesis or chorionic villus sampling during pregnancy unless medically indicated.
If you have been diagnosed with alpha thalassemia, you should also follow your doctor’s advice on how to manage your condition and prevent complications. This may include:
Taking regular blood tests to monitor your hemoglobin levels and iron status.
Taking medications as prescribed by your doctor to treat any symptoms or complications.
Following a healthy diet that provides enough calories, protein, iron, folic acid, vitamin B12, calcium, zinc, and other nutrients for your growth and development.
Avoiding alcohol, tobacco, drugs, caffeine, salt substitutes containing sodium borohydride (which can cause iron overload), antimalarial drugs (which can cause malaria), anticonvulsants (which can cause liver damage), antibiotics (which can cause allergic reactions), anticoagulants (which can increase bleeding ), and other medications that can interact with iron.
