THALASSEMIA FATIMA DARAKHSHAN 2 K 10 BSVI35 INTRODUCTION

THALASSEMIA FATIMA DARAKHSHAN (2 K 10 -BS-V&I-35)

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

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

Symptoms Severe type symptoms include: O Fatigue and weakness O Jaundice O Growth Failure O Increased heart rate (Tachycardia) Infants with severe type die before or soon after birth.

Diagnosis of Thalassemia O Blood Test: Complete Blood Count O Haemoglobin Test O A CBC - amount of hemoglobin and red blood cells, in a sample of blood. O Male: 4. 7 to 6. 1 million cells/u. L; Female: 4. 2 to 5. 4 million cells/u. L. O Hemoglobin tests- types of hemoglobin

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

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

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

Iron chelation therapy O Regular blood transfusions can lead to Iron overload O Damages the liver, heart, and other parts of the body. O Deferoxamine O Deferasirox O Deferiprone

Folic Acid O 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 O Replaces faulty stem cells with healthy ones from a donor O have been used successfully in some children with severe thalassemia. O Risky procedure and it may result in death.

Possible Future Treatments O new treatments for thalassemias. O to insert a normal hemoglobin gene into stem cells in bone marrow. O to trigger a person's ability to make fetal hemoglobin after birth. This type of hemoglobin is found in fetuses and newborns.

And that’s Not all! O Dr. Saqib Ansari at National Institute of Blood Diseases has mentioned in their research that administration of “Hydroxyurea, ” can either abolish or markedly reduce thalassemic children’s dependence on regular blood transfusions. O 41 percent of the 152 thalassemic children - no more anemic after treating with hydroyurea.