Thalassemia is a medical condition that requires the patient in some cases to undergo many blood trnsfusions. Many children are affected from this condition. The disease is a genetically inherited and is very prevalent in India. The article intends to give the reader a brief overview of Thalassemia
What is Thalassemia?
Thalassemia is a genetic blood disorder in which the bone marrow cannot form sufficient red cells and red cell survival is also reduced. Thalassemia is an inherited blood disorder. "Inherited" means they're passed on from parents to children through genes.In thalassemia, the genetic defect results in reduced rate of synthesis of one of the globin chains that make up hemoglobin. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to all parts of the body. It also carries carbon dioxide (a waste gas) from the body to the lungs, where it's exhaled. Reduced synthesis of one of the globin chains can cause the formation of abnormal hemoglobin molecules, thus causing anemia, the characteristic presenting symptom of the thalassemias.Thalassemias affect both males and females. They occur most often among people of Italian, Greek, Middle Eastern, Asian, and African descent. Severe forms usually are diagnosed in early childhood and are lifelong conditions.
Categories of Thalassemia
Normal hemoglobin is composed of two chains each of alpha and beta globin. Thalassemia patients produce a deficiency of either alpha or beta globin.The thalassemias are classified according to which chain of the hemoglobin molecule is affected. In alpha thalassemias, production of the alpha globin chain is affected, while in beta thalassemia production of the beta globin chain is affected.There are many forms of thalassemia. Each type has many different subtypes. Both alpha and beta thalassemia include the following two forms:
Thalassemia major: You must inherit the defective gene from both parents to develop thalassemia major. Where two carriers decide a family there is one in four chance that their child could inherit their carrier genes and develop Beta Thalassemia Major, one in four of a child being normal and 50% chance of the child also being a carrier. The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of pregnancy).Children born with thalessemia major (Cooley's anemia) are normal at birth, but develop severe anemia during the first year of life. Associated with this could be chronic diseases such as diabetes, growth and puberty failure and early menopause and blood transfusion complications such as hepatitis C, hepatitis B and HIV infections. The treatment and management is a financial and psychological burden on the patient and family. Severe thalassemia can cause early death due to heart failure, usually between ages 20 and 30. Frequent blood transfusions with therapy to remove iron from the body helps improve the outcome
Thalassemia minor: Thalassemia minor occurs if you receive the defective gene from only one parent.Persons with the minor form of alpha and beta thalassemia have small red blood cells (which are identified by looking at their red blood cells under a microscope), but no symptoms.
Symptoms and problems of Thalassemia:
- Bone deformities in the face
- Growth failure
- Shortness of breath
- Yellow skin (jaundice)
- A physical exam may reveal a swollen (enlarged) spleen.
- When A blood sample will be taken and sent to a laboratory for examination, red blood cells will appear small and abnormally shaped when looked at under a microscope and a complete blood count (CBC) reveals anemia.A test called hemoglobin electrophoresis shows the presence of an abnormal form of hemoglobin.
- Untreated, thalassemia major leads to heart failure and liver problems, and makes a person more likely to develop infections.
- Blood transfusions can help control some symptoms, but may result in too much iron which can damage the heart, liver, and endocrine system.
Treatment for Thalassemia
Treatments for thalassemias have improved greatly in the past few years. People who have moderate and severe thalassemias are now living longer and have better quality of life than before. Patients with thalassemia minor usually do not require any specific treatment.
Treatment for patients with thalassemia major includes chronic blood transfusion therapy, iron chelation, splenectomy, and allogeneic hematopoietic transplantation. These transfusions are necessary to provide the patient with a temporary supply of healthy red blood cells with normal hemoglobin capable of carrying the oxygen that the patient's body needs.While thalassemia patients were given infrequent transfusions in the past, clinical research led to a more frequent program of regular blood cell transfusions that has greatly improved the patients' quality of life. Today, most patients with a major form of thalassemia receive red blood cell transfusions every two to three weeks, amounting to as much as 52 pints of blood a year.People recieving such transfusions should avoid taking any iron supplements. Doing so can cause a high amount of iron to build up in the body, which can be harmful.To help remove excess iron, for patients who receive significant numbers of blood transfusions, they need to undergo "iron chelation therapy," in which a drug is introduce dinto the body which binds with excess iron and removes it through the urine or stool. Bone marrow transplant may help treat the disease in some patients, especially children.
A good video encouraging people to donate blood to help thalassemiac kids
Some good references and reading material for understanding Thalassemia better: