PRACTICE TEACHING

ON THALASSEMIA

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.

Definition:-OThallesemia describes a group

of inherited disorders characterized by reduced or

absent amount of hemoglobin, the oxygen –carrying protien

inside the red blood cells.

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.

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Alpha Subunit

Chromosome 16

4 genes

Beta thalassemia

Pathophysiology

Disturbance of ratio between Alpha & non alpha globin chain synthesis then absent or decrease production

of one or more globin chains

Formation of abnormal Hb structures

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Ineffective erythropoiesis

 

Excessive RBCs Destruction

Iron Overload

Extra-medullary hematopoiesisO  

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.

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Diagnostic evaluation 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

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Conti…OFamily genetic studies also help in making a thalassemia diagnosis. Genetic testing involves taking a family history and doing blood tests on family members.

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O Prenatal testing can determine if an unborn baby has thalassemia and how severe the disease is.

O Placenta, Amniotic fluid, Umbilical cordO Haemoglobin electrophoresis.

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.