What are Hemoglobinopathies ? Hemoglobinopathies are a diverse group of inherited blood disorders that results in the structure and/or synthesis of haemoglobin. Common Hemoglobinopathies includes Sickle Cell Disease, Thalassemia, Hemoglobin E Disease etc.. Sickle Cell Disease and Thalassemias are common in main land India. However Hemoglobin E Disease is of significant for Nagas and the Northeast States as the disease is prevalent in this part of the country. What is Hemoglobin E Disease (EE)? Hemoglobin E in the red blood cells is responsible for causing Hemoglobin E Disease. Children inherits this disease from their parents as a recessive genetic disorder. This means hemoglobin E gene is passed from both mom and dad to the baby causing Hemoglobin E disease (hemoglobin EE). Persons with Hemoglobin EE have only hemoglobin E and no adult or normal hemoglobin. When both parents have one hemoglobin E gene, there is a 1 in 4 or 25% chance with each pregnancy that an infant will inherit two hemoglobin E genes. There are no serious health problems associated with Hemoglobin EE, but the gene for hemoglobin E is passed on from your child to your future grandchildren. Hemoglobin E disease is not contagious. Most people with hemoglobin E disease have mild anemia and occasionally may have a slightly enlarged spleen; but usually they do not have disease symptoms and do not require treatment. Persons with hemoglobin E disease have red blood cells that are smaller than normal and have an irregular shape because particles inside the red blood cells draw together toward the center of the cells (contract). Up to 75% of the hemoglobin EE red blood cells look like a bull’s eye target with a dark center . What Problems can Hemoglobin E Disease (EE) Cause? Hemoglobin EE red blood cells are not very flexible in moving through blood vessels and have a smaller outside surface area to carry oxygen because they do not have the biconcave disk shape of normal red blood cell .Hemoglobin EE red blood cells are very small, unstable and have a reduced ability to hold on oxygen. The life span of these red cells are shorter than normal. (Normal life span is about 120 days ) What is the Frequency of Hemoglobin E Disease (EE)? Hemoglobin E disease affects both sexes equally and is the second most common abnormal hemoglobin in the world. It is very common among persons from Southeast Asia or have ancestors from Cambodia,Laos and Thailand. Hemoglobin EE is also found in people who live in Vietman, Malaysia, Northeastern India, Bangladesh, Pakistan and Sri Lanka and their descendants. What can be done to Treat Hemoglobin E Disease (EE)? Treatment is usually not necessary. Folic acid supplements may be prescribed by your child’s doctor to help his or her body to produce normal red blood cells and improve the symptoms of anemia. People with hemoglobin E disease can expect to lead a normal life. What is Hemoglobin E/Beta-Thalassemia Disease? Hemoglobin E/beta-thalassemia disease is a more serious disease than hemoglobin E disease (EE). Children with hemoglobin E/beta-thalassemia inherits one gene for hemoglobin E from one parent and one beta-thalassemia gene from the other parent. The beta-thalassemia gene causes the body to make less than the normal amount of hemoglobin. Persons who are affected may have a more severe anemia which can be life threatening, depending on the severity of the beta-thalassemia. If not treated, this disease can lead to heart failure from the severe destruction of red blood cells. It also can lead to severe enlargement of the spleen and liver, changes in bones and poor growth. Treatment may include repeated blood transfusions. Your baby’s doctor will do a complete blood count (CBC) and smear of the red blood cells to look for beta-thalassemia when your baby is approximately 6 to 9 months of age. What are the Most Important Things to Remember about Hemoglobin E Disease(EE) and Hemoglobin E/Beta-Thalassemia Disease? ■ Work very closely with your child’s doctor and hematologist (a doctor who is a blood specialist - Hematologist). Make sure your child has regular checkups with them. ■ Call your child’s doctor when you have questions and have your child seen if you have any medical concerns. How Do I Get More Information about Hemoglobin E Disease? ■ Talk with your baby’s doctor. You may also want to have a genetic consultation for you and your family to see how these diseases might affect future children or grandchildren. How do we diagnosis hemoglobinopathies ? A complete blood count in combination with a haemoglobin electrophoresis can diagnose the disease. The main aim of this report is to increase awareness of this relatively rare but significant blood disorder. At this point of time no research has yet been done amongst Nagas, yet few cases of carriers has been diagnosed recently. A study on Hemoglobin E disease in the Northeast states suggests that about 11% of the population have been found to be carriers. For Nagas this type of research will be possible only in the near future as awareness of the disease is limited at present. Hope that the knowledge of this rare but significant disorder will become clear in two to three years time.
Dr. Rendemo Shitiri Pathalogist Zion Hospital and Research Centre.
