I hope the story of Rohan published in our
previous article might have threw some light on what Thalassemia is all about &
few basic statistics on the condition of Thalassemia in our country. In this
series we are going to discuss on the Diagnosis & cause of Thalassemia.
Diagnosis:
1) Prenatal
Stage:
With the advancement in medical science its
very much possible to diagnose any deformity in the new born during the
prenatal stage by conducting the simple genetic testing. If both the parents or
any one of them are carrier then there is an increased risk of the Thalassemia
in the new born. Hence its always advisable to take the help of genetic
counselor to know the risk of passing on this disease to the kid especially when any one of the parent is a carrier.
2) Blood
Test:
CBC (Complete Blood Count) measures the amount
of hemoglobin and the different kinds of blood cells, such as red blood cells,
in a sample of blood. People who have thalassemias have fewer healthy red blood
cells and less hemoglobin than normal in their blood. People who have alpha or
beta thalassemia trait may have red blood cells that are smaller than normal.
Hemoglobin tests measure the types of
hemoglobin in a blood sample. People who have thalassemias have problems with
the alpha or beta globin protein chains of hemoglobin.
3) Based on
Severity:
Moderate and severe thalassemias usually are
diagnosed in early childhood. This is because signs and symptoms, including
severe anemia,
often occur within the first 2 years of life.
People who have milder forms of thalassemia
might be diagnosed after a routine blood test shows they have anemia. Doctors
might suspect thalassemia if a person has anemia and belongs to certain ethnic
group.
Causes
of Thalassemia:
Genetic: Thalassemia is basically a genetic disorder
which happens because of genetic mutation. When both the parents are carrier of thalassemia there is an increased chance of Thalassemia to their
offspring. On the other hand if one of
the parent is a carrier of Thalassemia then it's quite possible that the
offspring might be having Thalassemia minor where the offspring won't exhibit any major symptoms.
Ethnicity: According to the Center for Disease Control (CDC),
thalassemia is most common in people from Asia, the Middle East, Africa, and
Mediterranean countries such as Greece and Turkey.
Contd......
Source:
www.nhlbi.nih.gov/www.healthline.com
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