Thalassemia

                           Thalassemia

Thalassemia Minor: 

 Thalassemia is a group of genetic disorders characterized by the 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.

Its 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 trait generally 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)

        Jaundice

        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’àthe ferrous (iron) component and ‘globin’ Ãthe 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 Thalassemia or beta Thalassemia.

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:

   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 cause 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 the trait. 

Hydrops Fetalis or Alpha Thalassemia Major.:

In this condition, there is a 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 (within utero blood transfusions), they require life-long blood transfusions for survival.

Beta Thalassemia:

  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.

Thalassemia intermedia:

 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:

 Diagnosis of Thalassemia major is confirmed by Hemoglobin electrophoresis with an increase in total hemoglobin and analysis of lymphocyte DNA.

 Hemoglobin electrophoresis show: 

. HbA decreased 

. HbA2 increased 

. HbF slightly increased or normal

. A complete 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.

. MCH(mean corpuscular hemoglobin) is decreased.

. Serum iron levels when teased help in ruling out anemia due to iron deficiency.

. The blood test of a family member for family genetic 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 with 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 may 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 for sufferers.

Disadvantage: 

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 circulating blood. 

Persons suffering from Thalassemia are also prone to:

. Osteoporosis and osteopenia, even people receiving very good quality treatment eventually develop thinning and brittle bones particularly in the lumbar vertebrae and femoral bone (thigh bone).

. Short Stature

. The absence of breast in girls and absence of testicular enlargement in boys. 

. Irregular menses

. Zinc deficiency

. Diabetes.

Homeopathic Medicine for Thalassemia

Antipyrinum: Red blood cells are of different shapes.

Arsenicum Alb. : Abnormally large red cells. Anemia on account of degenerative changes in the blood.

Butyricum acidum : A salt or ester of Butyric acid can cure cell anemia – thalassemia.

Calcarea ars. : Its use increases hemoglobin and red blood cells.

Ferrum met. : It is useful for the treatment of thalassemia major, hereditary or genetically transmitted abnormalities with familial or racial incidence – mostly found in children. The trouble is worse in winter.

Lachesis: After transfusion of blood, this remedy will stop its further decomposition. The interval between the blood transfusion is increased and the progress of the disease is retarded.

Natrium cacodyl.: It increases the number of red blood cells almost to double.

Phosphorus: It stops further disorganization of blood. The skin is very pale and jaundice may be present.

Picricum Acidum: Progressive abnormality of red cells which become larger than normal resulting in pernicious anemia.

Plumbum met.  Rapid reduction in a number of red blood cells causing great paleness of the skin. Cramps in the calves. Twitching of muscles.

Thiosinaminum: This may prove useful in the treatment of the disease as it cures wasting of the spinal marrow – tabes dorsalis.

Thyreoidinum: It is useful in the treatment of this disease when there are anemia, emaciation, muscular weakness and some thyroid trouble.