Hemoglobin E Beta Thalassemia

What is Hemoglobin E Beta Thalassemia?

Hemoglobin E Beta Thalassemia is a heterozygote state caused by a person inheriting a mutation for Hemoglobin E from one parent and Beta Thalassemia from another parent. Hb E beta Thalassemia is mostly prevalent in South East Asia and Eastern India.

This compound heterozygote state with two mutations presents like Thalassemia Intermedia. Some patients require regular blood transfusions while most will need only intermittent transfusions. Most patients also require iron chelation and other therapies.

Patterns of Inheritance

Hemoglobin E Beta Thalassemia is inherited when one parent has Hemoglobin E trait and the other has Beta Thalassemia trait. If the offspring inherits both the disease mutations, it results in this compound heterozygote state- Hemoglobin E Beta Thalassemia.


Image source: Pixabay

Symptoms and Diagnosis


Signs and symptoms in Hemoglobin E Beta Thalassemia intermedia or major are similar to Beta Thalassemia Intermedia. Individuals with Hemoglobin E Beta Thalassemia carrier or minor have no symptoms and remain healthy. In most cases, they do not even know they carry the disease until an incidental evaluation reveals the same.

Babies born with Hemoglobin E Beta Thalassemia present with symptoms within the first 2-3 years of life:

  • Pale skin
  • Jaundiced condition with yellow skin and eyes
  • Failure to thrive
  • Feeding problems
  • Fussiness and irritability
  • Splenomegaly or enlargement of the spleen
  • Hepatomegaly or enlargement of the liver
  • Bone deformities

Image source: Pixabay


If your pediatrician suspects Hemoglobin E Beta Thalassemia, he/she will do some simple blood tests to confirm. Some of the blood tests include:

  • Complete Blood Count (CBC) which will usually indicate hemolytic anaemia with increased WBCs (white blood cell counts), low platelets (due to expansion of spleen) and microcytic anaemia
  • HPLC or Hemoglobin electrophoresis
  • Serum ferritin to check for iron overload

Image source: Pixabay

Current Management

  • Blood transfusions – Hemoglobin E Beta Thalassemia may require lifelong treatment in the form of regular blood transfusions to make up for the reduced hemoglobin count
  • Iron chelation - Apart from regular blood transfusions, iron chelation therapy in the form of deferoxamine (desferal) subcutaneous infusion (with a pump), oral tablets like deferiprone (kelfer), deferasirox (some available brands are asunra, desirox, defrijet or oleptiss) is required as the excess iron from blood transfusions accumulate in the vital organs causing severe damage and even death due to cardiac and liver failure. Your hematologist will be the best person to advise you on the best mode of iron removal. If you experience any side effects and you need to inform your doctor
  • Hydroxyurea is a capsule and has been used in patients with many hemoglobin disorders and may be effective in increasing the hemoglobin levels and reducing the spleen size in patients
  • Splenectomy to remove the spleen may be necessary in some patients. Discussion of pros and cons is a good idea before any such procedure to avoid splenomegaly

Newer Therapies

Newly approved drug Luspatercept-AAMT which has been useful in reducing blood transfusion frequency in Thalassemia Intermedia may also be helpful for patients with Hemoglobin E Beta Thalassemia.


Description, Types, Causes, Diagnosis, Treatment






Standard of care guidelines

Children’s Hospital and Research Center Oakland

United Kingdom Thalassaemia Society

National Health Mission India

Thalassaemia International Federation

Disease Videos

Beta Thalassemia - causes, symptoms, diagnosis, treatment, pathology

Alpha-thalassemia - causes, symptoms, diagnosis, treatment, pathology

What is thalassemia

Reimaging beta-thalassemia and its treatment

All about thalassaemia


Hemoglobin E Beta Thalassemia, Hemoglobin, Carriers, Minors, Trait, HbE, Bone Marrow Transplant (BMT), HLA-Match, Blood Transfusion, Iron Chelation, Serum Ferritin, Deferoxamine, Deferasirox, Deferiprone, Folic Acid, Gene Therapy