Thalassemia is a group of genetic disorders characterized by production of abnormal hemoglobin in red blood cells.
It is sometimes called Mediterranean anemia, von Jaksch anemia or Cooley's anemia, named after the physicians who first diagnosed it. Thalassemia affects all races. People of Mediterranean descent, such as Italians and Greeks, and people in the Arabian Peninsula, Iran, Africa, Southeast Asia and southern China are genetically more prone to it.
It’s prevalence is least among the black African population.
Symptoms of Thalassemia
The symptoms in thalassemia vary greatly according to its type. Mostly the symptoms are caused by the insufficient supply of oxygen to the tissues (anemia). Though a genetic disorder passed on from parents, all patients do not suffer the same degree.
Silent carriers :
persons having the alpha thalassemia trait or beta thalassemia traitgenerally have no symptoms. The condition is so mild that even the positive finding of slightly reduced red cell count and hemoglobin are incidental.
In severe forms of thalassemia, symptoms encountered are:
- Breathlessness (dyspnea)
- Abdomen appears distended or protruded due to an enlarged spleen and liver.
- Pale skin due to anemia
- Bone pains
- Abnormal growth of facial bones.
- Child shows poor growth and short stature.
Causes of Thalassemia
Thalassemia is a genetic disorder. It is the most common, inherited single gene disorder in the world. Many possible variant and mutant forms are possible.
All red blood cells contain ‘hemoglobin’. The hemoglobin in the blood picks up oxygen from the lungs and transports it to all body tissues. It also picks up carbon dioxide from these tissues and delivers it to the lungs to be expired out of our bodies.
‘Hemoglobin’ has two major components. ‘Heme’Ã the ferrous (iron) component and ‘globin’ Ã the protein part. The globin part constitutes alpha and beta protein chains.
If the genes responsible do not produce enough of alpha or beta chains, the red cells cannot carry hemoglobin properly. The result would be anemia which starts in early childhood and lasts all through life.
There are several forms of hemoglobin (Hb). The common ones are HbA, HbA2, HbF, HbS, HbC, Hgb H, and Hgb M.
Healthy adults only have significant levels of HbA and HbA2.
HbS is an abnormal type of hemoglobin associated with sickle cell disease. HbC is also an abnormal form of hemoglobin associated with hemolytic anemia (anemia due to increased destruction of red blood cells).
Types of Thalassemia
Thalassemia is classified as Alpha Thalessemia or beta Thalessemia.
Where the genes do not produce enough alpha chains, the condition is called ‘alpha’ Thalassemia. Deficient production of beta chains is termed as ‘beta’ Thalassemia.
Alpha Thalassemia is also called “silent carrier” Thalassemia:
In this condition, the deficiency of alpha proteins is mild enough to not produce any symptoms. There are generally no health problems. The condition is an incidental finding when an apparently normal individual has a child suffering from Hemoglobin H disease or has the alpha Thalassemia trait.
Hemoglobin H disease:
In this condition the deficiency in the production of alpha globulin in great enough to cause severe anemia and enlargement of the liver and spleen. Bone deformities and fatigue are other symptoms that occur along with anemia. Hemoglobin H is the abnormal form of hemoglobin produced by the remaining beta globulins which causes faster than usual break down of the red blood cells.
Alpha Thalassemia trait or mild alpha Thalassemia
Here the deficiency of alpha protein causes either no symptoms or presents with only mild anemia. The symptoms are very mild compared to the hemoglobin H disease. Often the person receives iron supplements for the mild anemia and there is no improvement as both the physician and the patient are unaware of thetrait.
Hydrops Fetalis or Alpha Thalassemia Major.
In this condition, there is complete absence of alpha globulins. Gamma globulins produced by the fetus form hemoglobin Barts – which is abnormal hemoglobin. Excluding very rare situations where this condition is diagnosed before birth, nearly every individual with this condition dies before or shortly after birth.
Where the person survives (with in utero blood transfusions), they require life-long blood transfusions for survival.
Beta Thalassemia can range from mild to severe. There are three types of beta Thalassemia.
Beta Thalassemia minor or beta Thalassemia trait.
A person with this condition has only a genetic trait for Thalassemia and usually doesn't experience any health problem related to Thalassemia. If mild anemia is present, it is generally confused with anemia of iron deficiency. However, the response to treatment with iron supplements is generally poor.
This condition lies between major and minor forms. People affected require occasional blood transfusions to treat anemia especially in stressful times for the body like pregnancy or illness.
There is a wide range of severity of symptoms in this condition. Moderately severe anemia, bone deformities, spleen enlargement are health problems in Thalassemia intermedia.
This condition is best differentiated from the Thalassemia major by the number of blood transfusions required. The symptoms are usually not life-threatening. Blood transfusions are given to improve the quality of life and not because the symptoms are life-threatening.
Thalassemia major or Cooley's Anemia.
This condition is severe and has life-threatening consequences. There is complete lack of beta globulin protein. Severe life-threatening anemia is characteristic of beta Thalassemia major. Untreated patients die before the age of twenty. Frequent blood transfusions are required for survival. Bone deformities, an enlarged spleen and iron overload in the system due to frequent blood transfusions are other symptoms requiring special treatment in this condition.
Diagnosis of Thalassemia major is confirmed by Hemoglobin electrophoresis with an increase in total hemoglobin, and analysis of lymphocyte DNA.
Hemoglobin electrophoresis will generally show:
- HbA decreased
- HbA2 increased
- HbF slightly increased or normal
- A complete blood count will provide information about the hemoglobin and various blood cell levels.
- Thalassemia minor is confirmed by these values from a complete blood count
- MVC (mean corpuscular volume) – slightly decreased and
- MCH (mean corpuscular hemoglobin) is decreased.
- Serum iron levels when tested help in ruling out anemia due to iron deficiency.
- Blood tests of family members for family genetic studies help identifying possible carriers and sufferers.
- Prenatal checking of blood also helps in knowing whether the unborn child has Thalassemia.
Treatment of Thalassemia
- Blood transfusion is the most common treatment required by patients of Thalassemia
Minor forms of Thalassemia does not require any treatment. Occasional transfusions are required only during surgery, after delivery or severe infections.
- Severe forms of the disease warrant such frequent transfusions of red blood cells that the person my get up to 52 pints of red blood cells in one year. This means that people end up having one transfusion every two to three weeks. Red cell transfusions are life saving and greatly improve the quality of life in sufferers.
frequent episodes of red blood cell transfusions can cause an overload of iron in the circulating blood which can damage the heart and the liver. Desferal is the medication given to treat an iron overload. It is an ‘iron chelator’.
Chelating agents combine with the excess iron in the body and help in eliminating them from circulating blood. They thus prevent the toxic effects of iron overload which are:
- Decreased secretion of the sex hormones
- Diabetes mellitus
- Under activity of the thyroid glands
- Under activity of the parathyroid and other glands.
Persons suffering from Thalassemia are also prone to
- Osteoporosis and osteopenia (reduced bone density) Ã even people receiving very good quality treatments eventually develop thinning and brittle bones particularly in the lumbar vertebrae and femoral bone (thigh bone).
- Short stature.
- Absence of breast in girls and absence of testicular enlargement in boys.
- Delayed pubertal development.
- Irregular menses.
- Zinc deficiency.
Homeopathic Treatment for Thalassemia:
Homeopathy addresses the root cause and offers medication which are help eventually reduce the need for frequent blood transfusion. Homeopathic medicines also help to improve immune status, which in turn also controls frequent attacks of respiratory infections. Role of homeopathic treatment is supplementary in case of Thalassemia.