How to deal with alpha thalassemia

Thalassemia is a treatable inherited blood disorder which can be managed with transfusion of blood. Thalassemia has two main subtypes: Alpha Thalassemia and Beta Thalassemia. Early detection and diagnosis of Alpha Thalassemia can help the world win the battle against this rare genetic disorder. Let us understand this condition in detail!

Alpha thalassemia and its types

Dr Ashish Dixit, consultant, hematology, hemato-oncology & bone marrow transplantation, Manipal Hospitals, Old Airport Road, Bengaluru, says alpha (or α) thalassemia is a genetic blood disorder characterized by reduced or absent production of alpha-globin chains (components of hemoglobin that carry oxygen throughout the body).

He adds that the mildest form of alpha thalassemia, referred to as alpha thalassemia minor or alpha thalassemia trait, occurs when only one or two alpha-globin genes are affected. Individuals with this form of the condition usually have no or only mild symptoms, such as anemia (low red blood cell count) and small red blood cells. 

“One gene (silent carriers) or two genes (thal trait) disruptions out of the four may lead to mild anemia and microcytosis (decrease in the size of red blood cells) and do not present a problem to the carriers of the disease,” says Dr Dixit. “But these carriers pose the risk of giving birth to kids with a major form of alpha thalassemia if their partner is also a carrier.” 

He adds that in more severe forms of thalassemia such as hemoglobin H (HbH) and α-thalassemia major (Hb Bart syndrome), where three or four alpha-globin genes may be affected, there are complications such as anemia, an enlarged spleen, jaundice and problems related to bones.

Diagnosis of alpha thalassemia

Dr Dixit says the diagnosis of this condition can be done in the following manner:

• A combination of clinical evaluation, laboratory tests and genetic testing.
• A medical history and physical exam reveal symptoms such as anemia, enlarged spleen or jaundice.
• Blood tests evaluate the levels of hemoglobin (Hb), red blood cells and other blood components.
• Genetic testing to confirm the diagnosis and determine the specific type.
• Prenatal testing in case of a developing fetus.

Living with alpha thalassemia

Dr Dixit recalls the case of two-year-old Akshita (name changed) who was referred to a hematology clinic for anemia and spleen enlargement. Clinical examination showed liver and spleen enlargement and severe anemia with small size red blood cells detected as low mean corpuscular volume (this blood test measures the average size of your red blood cells). A hemoglobin variant test suggested alpha thalassemia.

A mutation (alteration) study later depicted alpha thalassemia with HbH disease and with both parents identified as carriers. Put on a regular transfusion programme, Akshita responded well and made a good clinical recovery. However, to remove the transfusion dependency, the baby was made to undergo a bone marrow transplant from a sibling. Akshita has now been cured of the condition.

Difference between alpha thalassemia and other blood disorders

“Sickle cell disease is a blood disorder that affects hemoglobin pigment in erythrocytes, caused by a different alteration (HBB gene causes the production of abnormal Hb molecules),” says Dr Dixit, adding that treatment may comprise medications, transfusion of blood and bone marrow transplants.

Differentiating between thalassemia and blood cancer, Dr Dixit points out that hematologic or blood cancers originate in the bone marrow or lymphatic system, affecting the function and production of blood cells. “Unlike sickle cell disease or alpha thalassemia, which are inherited genetic disorders that majorly affect red blood cells, blood cancer can affect all types of cells, causing leukemia, lymphoma and myeloma” he adds.

Diet suggestions

Dr Rahul Jadeja, emergency medicine, NIMS, Jaipur, recommends that patients going through blood transfusion should opt for a low-iron diet. Thalassemia patient should avoid eating red meat such as pork and beef. Giloy aids in reducing the risk of developing thalassemia. Consumption of papaya in moderation can also help keep symptoms of thalassemia at bay.

Risk and treatment

Talking about those at risk of developing alpha thalassemia, Dr Jadeja says, “If both parents are missing at least one α-globin allele (alternative form of genes), their kids are at risk of having Hb Bart syndrome, alpha thalassemia trait or HbH disease.” He adds that the condition commonly prevails in people of African, Southeast Asian and Mediterranean descent.

According to Dr Jadeja, transfusion of blood is one of the main treatments for thalassemia. Apart from it, stem cell transplant is the only treatment that can cure thalassemia.

Takeaways

• Alpha thalassemia is a genetic blood disorder characterised by reduced or absent production of α-globin chains.
• Clinical evaluation, blood tests and genetic testing are some of the best methods of diagnosis.
• Stem cell transplant can cure alpha thalassemia.