Alpha Thalassemia: Types, Causes and Treatment

Alpha thalassemia is a hereditary blood disorder that affectsthe production of haemoglobin, resulting in anaemia and other health problems. The more genes affected, the moresevere it is.

With right care and treatment,Alpha thalassemia can be managed. Early diagnosis and continued medical surveillance can help maintain an optimal quality of lifefor these patients.

What is Alpha Thalassemia?

Alpha thalassemia occurs when the genes responsible for the production of alpha-globin chains—crucial components of hemoglobin—are mutated. When the body cannot produce enough alpha-globin, an imbalance results in hemoglobin, leading to anaemia and other associated health issues.

Alpha Thalassemia Types

Alpha thalassemia is classified into four types based on the number of affected genes and the severity of symptoms:

The severity of each type varies significantly, with symptoms becoming increasingly pronounced as more genes are affected.

Alpha Thalassemia Causes

Alpha thalassemia is a genetic condition caused by mutations in the genes responsible for producing alpha-globin chains, which are essential for hemoglobin function in red blood cells.

Difference Between Alpha and Beta Thalassemia

While both alpha and beta thalassemia affects hemoglobin production, they involve different genetic mutations and present different clinical features. Beta thalassemia involves mutations in the beta-globin genes on chromosome 11, whereas alpha thalassemia involves mutations in the alpha-globin genes on chromosome 16.

Alpha Thalassemia Symptoms

Alpha thalassemia symptoms can vary based on the severity of the condition and the number of genes affected. Some common signs include:

The Alpha Thalassemia Face

In severe cases of alpha thalassemia, particularly Hemoglobin H disease and alpha thalassemia major, patients can develop distinctive facial features, often referred to as "thalassemia facies." These include:

Diagnosing Alpha Thalassemia

Diagnosing alpha thalassemia involves several steps, including:

Complete Blood Count (CBC)

A CBC can reveal anaemia and abnormalities in red blood cells, such as microcytosis (small red blood cells) and hypochromia (pale red blood cells).

Hemoglobin Electrophoresis

This test helps differentiate alpha thalassemia from other forms of anaemia by identifying abnormal haemoglobin variants.

Genetic Testing

Genetic testing can confirm the diagnosis by identifying mutations in the alpha-globin genes. This is particularly useful for prenatal diagnosis and family planning.

Alpha Thalassemia Treatment

Treatment options for alpha thalassemia vary based on the severity of the condition:

Mild Cases

Individuals with silent carrier status or alpha thalassemia trait often do not require treatment. Regular monitoring and maintaining a healthy lifestyle are usually sufficient.

Hemoglobin H Disease

Patients with Hemoglobin H disease may require:

Alpha Thalassemia Major

Alpha thalassemia major is often fatal before birth. However, in rare cases where the condition is diagnosed early, in utero, blood transfusions can be administered to prolong the pregnancy.

Bone Marrow or Stem Cell Transplant

For severe cases, bone marrow or stem cell transplant may offer a potential cure. This procedure involves replacing the affected bone marrow with healthy marrow from a compatible donor.

Preventing Alpha Thalassemia

Since alpha thalassemia is a genetic disorder, prevention mainly involves genetic counselling andprenatal testing. Couples who have a family history of the genetic disorder, or who are members of ethnic groups with a high rate of the condition, are recommended to have genetic testing beforehaving a family. There are prenatal tests (e.g., chorionicvillus sampling [CVS], amniocentesis) that can determine whether alpha thalassemia is present in the fetus.

Living with Alpha Thalassemia

Alpha thalassemia management can include regular medical care, including supplemental vitaminsand minerals, a healthy diet, and avoiding things that can make your anaemia worse like infections. If you’re a patient, work with your health care provider (HCP)to monitor your condition and adjust treatments accordingly.

Community and Support

Support groups and community resources can offer valuable support and information for individuals and families affected by alpha thalassemia. Organizations such as the Thalassemia International Federation and local support groups provide resources, advocacy, and a sense of community.