FATIMA DARAKHSHAN (2K10-BS-V&I-35) THALASSEMIA FATIMA DARAKHSHAN (2K10-BS-V&I-35)

INTRODUCTION Inherited blood disorder an abnormal form of hemoglobin due to a defect through a genetic mutation or deletion. Results in excessive destruction of red blood cells, which leads to anemia.

Types Of Thalassemia Two types: Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or mutated. Beta thalassemia occurs when gene defects affect production of the beta globin protein. Alpha Subunit Chromosome 16 4 genes Beta Subunit Chromosome 11 2 genes

Symptoms Severe type symptoms include: Fatigue and weakness Jaundice Growth Failure Increased heart rate (Tachycardia) Infants with severe type die before or soon after birth. Depends on type and severity of disease. Carriers of alpha thalassemia and beta thalassemia have no symptoms.

Diagnosis of Thalassemia Blood Test: Complete Blood Count Haemoglobin Test A CBC - amount of hemoglobin and red blood cells, in a sample of blood.  Male: 4.7 to 6.1 million cells/uL; Female: 4.2 to 5.4 million cells/uL. Hemoglobin tests- types of hemoglobin

Diagnosis of Thalassemia Family genetic studies also help in making a thalassemia diagnosis. Genetic testing involves taking a family history and doing blood tests on family members. Prenatal testing can determine if an unborn baby has thalassemia and how severe the disease is. Placenta, Amniotic fluid, Umbilical cord Thalassemia Diagnosis Based on Genetic Testing Family genetic studies also help in making a thalassemia diagnosis. Genetic testing involves taking a family history and doing blood tests on family members.   Prenatal testing can determine if an unborn baby has thalassemia and how severe the disease is.

Treatment depend on the type and severity of the disorder. Regular blood transfusions Iron chelation therapy Folic Acid Bone marrow transplants

Blood Transfusion Healthy Blood – Intravenously Takes 1-4 hours repeated transfusions to maintain a healthy supply of red blood cells  (Cooley's anemia)-need regular blood transfusions (often every 2 to 4 weeks). 

Iron chelation therapy Regular blood transfusions can lead to Iron overload Damages the liver, heart, and other parts of the body. Deferoxamine Deferasirox Deferiprone Transfusion therapy, while life-saving, is expensive and carries a risk of transmission of viral and bacterial diseases. This procedure also leads to excess iron in the blood -- iron overload -- which can damage the liver, heart, and other parts of the body. To prevent damage, iron chelation therapy is needed to remove excess iron from the body. The hemoglobin in red blood cells is an iron-rich protein. Thus, regular blood transfusions can lead to a buildup of iron in the blood. This condition is called iron overload. It damages the liver, heart, and other parts of the body. To prevent this damage, doctors use iron chelation therapy to remove excess iron from the body. Two medicines are used for iron chelation therapy. Deferoxamine is a liquid medicine that's given slowly under the skin, usually with a small portable pump used overnight. This therapy takes time and can be mildly painful. Side effects include problems with vision and hearing. Deferasirox is a pill taken once daily. Side effects include headache, nausea (feeling sick to the stomach), vomiting, diarrhea, joint pain, and tiredness.

Folic Acid B vitamin that helps build healthy red blood cells. Your doctor may recommend folic acid supplements in addition to treatment with blood transfusions and/or iron chelation therapy.

Bone Marrow & Stem Cell Transplant Replaces faulty stem cells with healthy ones from a donor have been used successfully in some children with severe thalassemia. Risky procedure and it may result in death.

Possible Future Treatments new treatments for thalassemias. to insert a normal hemoglobin gene into stem cells in bone marrow. to trigger a person's ability to make fetal hemoglobin after birth. This type of hemoglobin is found in fetuses and newborns. Possible Future Treatments Researchers are working to find new treatments for thalassemias. For example, it might be possible someday to insert a normal hemoglobin gene into stem cells in bone marrow. This will allow people who have thalassemias to make their own healthy red blood cells and hemoglobin. Researchers also are studying ways to trigger a person's ability to make fetal hemoglobin after birth. This type of hemoglobin is found in fetuses and newborns. After birth, the body switches to making adult hemoglobin. Making more fetal hemoglobin might make up for the lack of healthy adult hemoglobin.

And that’s Not all! Dr. Saqib Ansari at National Institute of Blood Diseases has mentioned in their research that administration of “Hydroxyurea,” can either abolish or markedly reduce the thalassemic children’s dependence on regular blood transfusions. 41 percent of the 152 thalassemic children - no more anemic after treating with hydroyurea. http://www.pakistantoday.com.pk/2012/09/10/city/karachi/drug-can-correct-genetic-anomalies-in-thalassemia-patients/