Hemoglobinopathies: A comprehensive overview

Verified by Dr. Vipin Khandelwal, Consultant Pediatric Hemato Oncology, Apollo Cancer Centres, Navi Mumbai.

Hemoglobinopathies are a group of genetic blood disorders that affect the production or structure of hemoglobin, the protein in red blood cells that carries oxygen. Hemoglobinopathies can be mild or severe, and can cause a variety of symptoms, including anemia, fatigue, shortness of breath, and pain.

Causes of hemoglobinopathies

Hemoglobinopathies are caused by mutations in the genes that code for hemoglobin. Most of the time these mutations are inherited from parents.

Types of hemoglobinopathies

In India, the common types of hemoglobinopathies include:

• Sickle cell disease: In this disorder, the pathological hemoglobin is hemoglobin S. It is a type of hemoglobin that can form sickle-shaped red blood cells. Sickle-shaped red blood cells are more likely to get stuck in small blood vessels, which can block blood flow and cause pain and other complications.
• Thalassemia: Thalassemia is a group of hemoglobinopathies that are caused by mutations in the genes that code for the alpha or beta chains of hemoglobin. The alpha and beta chains of hemoglobin are the two proteins that make up hemoglobin. Thalassemia can cause the body to produce too little hemoglobin, which can lead to anemia and other complications.

Symptoms of hemoglobinopathies

The symptoms of hemoglobinopathies can vary depending on the type and severity of the disorder. However, some common symptoms include:

• Anemia: Anemia is a condition in which the body does not have enough healthy red blood cells to carry oxygen. Symptoms of anemia can include fatigue, shortness of breath, and pale skin.
• Fatigue: Fatigue is a feeling of tiredness or weakness. It is a common symptom of many medical conditions, including hemoglobinopathies.
• Shortness of breath: Shortness of breath is a difficulty breathing. It can be caused by a number of factors, including anemia and heart problems.
• Pain: Pain is a common symptom of many hemoglobinopathies, including sickle cell disease. Pain can occur in the bones, muscles, and joints.
• Jaundice: Jaundice is a yellowing of the skin and eyes. It is caused by a buildup of bilirubin in the blood. Bilirubin is a waste product that is produced when the body breaks down red blood cells.
• It is also one of the important causes of failure to thrive in children in India.

Diagnosis of hemoglobinopathies

1. Hemoglobinopathies can be diagnosed with a blood test-complete blood count and hemoglobin electrophoresis (HPLC). The blood test can measure the amount and type of hemoglobin in the blood.
2. Gene mutation analysis may be done to find confirm genetic causes of hemoglobinopathies.

How are hemoglobinopathies treated?

In mil cases no treatment is required. The parents only need genetic counselling for future child births. Severe forms of hemoglobinopathies are curable through allogenic hematopoietic stem cell transplant or bone marrow transplant (BMT). Besides these, there are other treatment options that can help manage the symptoms and improve the quality of life for people with these disorders.

• Sickle cell disease: Pain medication, blood transfusions, and hydroxyurea, a drug that can help to prevent sickle cell crises.
• Thalassemia: Treatment for thalassemia can include regular blood transfusions & iron chelation therapy.

What is the prognosis for people with hemoglobinopathies?

The prognosis for people with hemoglobinopathies varies depending on the type and severity of the disorder. However, with proper treatment, many people with hemoglobinopathies can live long and healthy lives.

How to support people with hemoglobinopathies?

There are a number of things that you can do to support people with hemoglobinopathies:

• Educate yourself about the disorder. The more you know about hemoglobinopathies, the better equipped you will be to support your loved one.
• Be supportive and understanding. People with hemoglobinopathies may experience a variety of challenges, both physical and emotional. Be there for your loved one and offer your support.
• Encourage your loved one to seek medical treatment. Hemoglobinopathies can be complex disorders, and it is important for people with these disorders to receive regular medical care.
• Connect your loved one with support groups and other resources. There are a number of support groups and resources available for people with hemoglobinopathies and their families. These groups can provide emotional support and information about the disorder.

Hemoglobinopathies are a group of genetic blood disorders that can have a significant impact on people’s lives. However, with early diagnosis, proper treatment and support, many people with hemoglobinopathies can live long and healthy lives.

Anemia Clinic at Apollo Cancer Centres, Navi Mumbai offers expertise for the early diagnosis & treatment of anemia & its complications.

Connect with our expert, Dr. Vipin Khandelwal, Consultant Pediatric Hemato Oncology, Apollo Cancer Centres, Navi Mumbai.

Call 022 6280 6280 for an appointment.