Alpha thalassemia – Types, causes, symptoms, and more

Alpha thalassemia – Types, causes, symptoms, and more

The condition known as alpha thalassemia is hereditary. It is passed down genetically from one or both parents. With thalassemia, one’s body produces less hemoglobin than usual. The two main subtypes of thalassemia are alpha and beta. Each type has an impact on a unique gene. Alpha thalassemia is a condition where one or more of the four alpha-globin genes, which are in charge of making hemoglobin, are faulty or absent.

Types of alpha thalassemia
Alpha thalassemia develops when one or more of the four genes responsible for producing hemoglobin is defective or absent. There are four types of alpha thalassemia:

Silent alpha thalassemia carrier
The other three genes are healthy, but one is missing or defective. Most blood tests come back normal. A person’s red blood cells may be smaller than usual. If one has the disease but is a quiet carrier, one can still pass on the defective gene to their offspring. The DNA tests confirm this.

Carrier of alpha thalassemia
Two genes are absent in this alpha thalassemia, and a person might be mildly anemic.

Hemoglobin H illness
The absence of three genes. There is now only one functional gene. A person’s anemia may range from mild to severe. Fever might make symptoms worse. Symptoms could also worsen if one is exposed to specific medications, chemicals, or infectious diseases. Frequently, blood transfusions are required. There is a higher chance of an individual passing alpha thalassemia major to their offspring.

Major in alpha thalassemia
In this type of condition, all 4 genes are absent and result in severe anemia. A newborn with this syndrome usually passes away before birth.

Causes of alpha thalassemia
The HBA1 and HBA2 genes are frequently involved in deletions that cause alpha thalassemia. Alpha thalassemia is more uncommonly brought on by modifications to the DNA sequence in or close to these genes. Nondeletion variants are the names given to such modifications. Alpha-globin is a protein produced by the HBA1 and HBA2 genes and is a subunit of the hemoglobin molecule.

The loss or modification of all four alpha-globin alleles causes Hb Bart syndrome, the most severe type of alpha thalassemia. Alpha-globin cannot be produced normally as a result of these alterations.

Alpha-globin deficiency causes cells to produce little or no normal hemoglobin. Instead, cells create hemoglobin Bart (Hb Bart) or hemoglobin H, aberrant types of hemoglobin (HbH). These misshaped hemoglobin molecules are ineffective at delivering oxygen to tissues.

Signs and symptoms
Silent carrier of alpha thalassemia: There are no signs of this type.
Carrier of alpha thalassemia: People with this condition might have mild anemia. People here may experience no or minor symptoms, such as mild weariness or intolerance to strenuous activity.
Hemoglobin H illness: Here, the symptoms range from mild to severe. Fatigue and intolerance to exercise are two of these. Leg ulcers, yellow skin, an enlarged liver or spleen, and other symptoms are also possible. People with this type run a higher chance of passing on the most serious kind, major alpha thalassemia, to their offspring.
Major in alpha thalassemia: Typically, babies with this kind pass away before birth.

Complications
Excessive iron: Having thalassemia can cause an excess of iron in the body, as can receiving numerous blood transfusions. The heart, liver, and endocrine system, which contains the hormone-producing glands that control bodily functions, can all suffer harm from too much iron.

Infection: Infection risk is higher in alpha thalassemia patients. This is particularly valid if one’s spleen is removed.

Bone deformities: Alpha thalassemia can broaden one’s bones by causing the bone marrow to swell. One’s face and skull, in particular, may have an aberrant bone structure due to this. Additionally, bone marrow enlargement thins and renders bones fragile, raising the risk of broken bones.

Expanded spleen: The spleen filters undesired substances such as old or broken blood cells and aids the body in fighting illness. Red blood cell apoptosis is frequently a complication of thalassemia. The spleen grows and has to work more than usual as a result.

Decreasing growth rates: The child’s growth and puberty might be delayed by anemia.

Heart issues: Severe alpha thalassemia may be accompanied by congestive heart failure and irregular cardiac rhythms.

Treatment options
Transfusions
People with HbH illness often experience mild, well-tolerated anemia. However, transfusions are occasionally required due to rapid red blood cell breakdown during diseases with a fever. Adults could need transfusions more frequently. Hemoglobin H-Constant Spring disease, a more severe type of HbH sickness, can cause severe anemia and necessitate repeated blood transfusions throughout a person’s lifetime.

Iron chelation therapy
With HbH illness, iron excess is possible. This could happen due to increased iron absorption in the small intestine, even without blood transfusions. Chelators are drugs that can assist the body get rid of excess iron.

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