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Genetic Testing Topics..

 
You are here : home > Genetic Testing > Testing for Genetic Disorders > Prenatal Testing for Sickle Cell Anemia

Prenatal Testing for Sickle Cell Anemia

Sickle cell anemia is a genetic disorder. In this disease the shape of hemoglobin changes to sickle shape. The oxygen binding capacity of hemoglobin gets reduced. So it is very important to predict the presence of sickle cell gene through prenatal testing. Learn more about prenatal testing of sickle cell anemia.


Sickle cell anemia is caused by the presence of hemoglobin S in the blood stream. There are certain specific objectives behind the prenatal testing for sickle cell anemia, which are as follows.


  • The presence of hemoglobin S is identified. 
  • The red blood cell count in relation to the hemoglobin level is evaluated.
  • It is checked whether the individual carries one or more than one hemoglobin gene copy that is altered in character.
  • It is also checked whether any other variant of abnormal hemoglobin is present. But some additional tests are required to determine and specifically identify them.

The screening for sickle cell anemia is a complicated one. The hemoglobin variants are over nine hundred in number. So the screening must be precise enough to correctly confirm whether hemoglobin S is at all present and the count of it. Given below are the screening procedures that together constitute the prenatal testing for sickle cell anemia:

Since sickle cell anemia is a genetic disease, the direct members of the family tree of the individual who already has sickle cell traits are screened. Even people who are not screened at birth or those who are unaware of the results of the screening that were performed on them when they were a child can opt for this screening. There are two tests that are performed:


Hemoglobin S Solubility Test and Sodium Metabisulfite Test

These are combination tests that screen for presence of hemoglobin S. a blood sample is obtained from the individual and some chemicals are added to it to reduce the oxygen level of the sample. If the individual happens to have a sickle cell trait, which means even a single sickle cell gene, hemoglobin S is sure to be present. Since the oxygen levels are reduced, the abnormal sickle cells will be formed.


The Final Screening

The final screening, confirmation and diagnosis are done through the following tests:

Hemoglobinopathy (Hb) Evaluation – The normal and abnormal hemoglobin types are varied and many in number. So the relative amounts of each of them are evaluated through a series of tests. The Hb evaluation method can specifically identify the particular variant of hemoglobin so that the identification and quantification becomes easier. The evaluation involves the following methods:

Hemoglobin Electrophoresis – This is a traditional common method that identifies the presence of various hemoglobin types.

Hemoglobin Fractionation – This is a popular method that screens hemoglobin types and particularly screens for Hb S.

Isoelectric Focusing – This is a very sensitive method that is practiced to obtain similar results as the above two. Prenatal testing for sickle cell currently makes the use of the Hb isoelectric focusing in most of the countries.

DNA Analysis – This is a very effective evaluation process as it can correctly examine and scrutinise the alterations and mutations taking place in the genes that are responsible for the production of the varied hemoglobin components. The test can specify whether the individual ahs one or more than one copy of the Hb S mutation. This therefore gives a very precise result regarding sickle cell.

Prenatal testing for sickle cell can also be done by testing the amniotic fluid when the fetus is 14-16 week old. There are certain risks involved I this testing procedure and it is strongly advised that the individual and the couple go for genetic counseling before deciding on the genetic testing. This will help them make an informed decision as the possible outcomes of the testing will be clearly explained to them before hand.

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Rahul.2 years ago
Where in India the prenatal sickle cell disease tests are performed ? Can anybody share this information with me as I have parents who are expecting and both have sickel cell trait. your early help will be highly appreicated. My eamil is drdangevet@gmail.com
 
 
 
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