THALASSEMIAFATIMA DARAKHSHAN

(2K10-BS-V&I-35)

INTRODUCTIONO 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 ThalassemiaO Two types:

O Alpha thalassemia occurs when 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.

Alpha Subunit

Chromosome 16

4 genes

Beta Subunit

Chromosome 11

2 genes

SymptomsSevere type symptoms include:O Fatigue and weaknessO JaundiceO Growth FailureO Increased heart rate (Tachycardia)

Infants with severe type die before or soon after birth.

Diagnosis of Thalassemia

O Blood Test: Complete Blood CountO 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/uL; Female: 4.2 to 5.4 million cells/uL.

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. 

Regular blood transfusions Iron chelation therapy Folic Acid Bone marrow transplants

Blood Transfusion

OHealthy Blood – IntravenouslyOTakes 1-4 hoursOrepeated 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 the thalassemic children’s dependence on regular blood transfusions.

O 41 percent of the 152 thalassemic children - no more anemic after treating with hydroyurea.