This document discusses thalassemia, an inherited blood disorder caused by mutations in genes responsible for producing hemoglobin. There are two main types: alpha thalassemia results from changes in the alpha globin gene, while beta thalassemia reduces production of beta globin. Common complications include bone deformities, enlarged spleen and slowed growth. Diagnosis involves blood tests to check red blood cell counts and DNA analysis to detect mutated genes. Treatment may include frequent blood transfusions, chelation therapy to remove excess iron, splenectomy, or stem cell transplant. Parents of children with thalassemia must ensure frequent transfusions, an iron-controlled diet, infection control and addressing malnutrition.
2. Definition:
Thallesemia is an inherited blood disorder in which the body
produces an abnormal form of haemoglobin which results in
excessive destruction of red blood cells and further leads to
anemia.
6. Etiology:
* inheritance.
* mutation in the DNA of cells that produce
haemoglobin.
* it is a form of thalassemia involving the genes
HB1 & HB2.
*
7. Complications:
*Bone deformities. Thalassemia can make your
bone marrow expand, which causes your bones to
widen. ...
*Enlarged spleen. ...
*Slowed growth rates. ...
*Heart problems.
8. Clinical manifestations:
* pale skin.
* shortage of red blood cells. (anemia)
* weakness.
* jaundice.
* enlarged liver and spleen.
* abnormalities in urinary tract.
9. Diagnostic evaluation:
* Blood tests(Blood tests can reveal the number of red blood cells and
abnormalities in size, shape or color. Blood tests can also be used for DNA analysis
to look for mutated genes.)
* Prenatal testing
Testing can be done before a baby is born to find out if he or she has
thalassemia and determine how severe it might be. Tests used to
diagnose thalassemia in fetuses include:
Chorionic villus sampling. Usually done around the 11th week of
pregnancy, this test involves removing a tiny piece of the placenta for
evaluation.
Amniocentesis. Usually done around the 16th week of pregnancy, this
test involves examining a sample of the fluid that surrounds the fetus.
13. How parents should take care of children:
* Need for frequent blood transfusion.
* Diet to control iron overloaded.
* infection control.
* Malnutrion.
14. Nursing Diagnosis:
* Altered tissue perfusion rltd to abnormal hemoglobin.
* Risk of infection related to anemia.
* activity intolrerance rltd to anemia.
* chronic pain rltd to skeletal changes.
* ineffective family coping related to poor prognosis.
* knowledge deficit rltd to child care in long-term chronic
illness with hemolytic anemia.