1 / 13

THALASSEMIA

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 :

aquene
Download Presentation

THALASSEMIA

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

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

  2. 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.

  3. 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.

  4. 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.

  5. 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

  6. 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

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

  8. 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). 

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

  10. 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.

  11. 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.

  12. 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.

  13. And that’s Not all! • Dr. SaqibAnsari 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.

More Related