thalassemia-sickle-cell-screening

Thalassemia & Sickle Cell Screening

Confirm Beta Thalassemia State with complete information on Mutations

Beta Thalassemia is a common inherited blood Disorder that reduces production of hemoglobin due to mutation in one or bothcopies of beta globin gene (HBB). HBB gene produces globin protein which is a part of Hemoglobin. The severity of anemia caused by Beta Thalassemia depends on which mutations are present.

Cardiovascular Function
Who Should be Screened?

Carrier screening of pregnant women (Prenatal Screening), preferably performed in first trimester.

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• Any individual with a raised Red Blood cell Count or reduced MCV or reduced MCH

• Pre marital Thalassemia Carrier screening of couples.

• Thalassemia screening in consanguineous (blood relation/cousin) marriage.

• Carrier screening of individuals belonging to high-risk communities.

• Newborn screening for Sickle Cell Disease by Dried Blood Spot (DBS).

Pain Management
THALSCREEN Beta Check Thalassemia and Sickle Cell Disease panel v2.0
Cardiovascular Function
Haemoglobinopathies

Hemoglobinopathy is a kind of genetic defect that results in abnormal structure of one of the globin chains of the hemoglobin molecule.

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Hemoglobinopathies are inherited single-gene disorders; in most cases, they are inherited as autosomal co-dominant traits. Common hemoglobinopathies include sickle-cell disease.

Cardiovascular Function
Beta Thalassemia Mutation Screening Test by Sequencing (Prenatal + MCC)
Cardiovascular Function
Beta Thalassemia Mutation Screening Test by Sequencing (Postnatal /Carrier)
Cardiovascular Function
Beta Thalassemia Gene Sequencing - Trio Analysis

Comparison

GENE Mutations Covered in THALSCREEN Panel
HBB
IVS I-5 (G-C)
619 bp del
IVS I-1 ( G - T ) and ( G - A )
COD 41 / 42 ( -TCTT )
COD 8 / 9 (+G)
COD 15 ( G - A)
COD 30 ( G - C ) & ( G - A )
CAP Site +1 ( A - C )
COD 5 ( -CT )
COD 16 ( -C )
- 88 ( C-T )
HbE
HbS
HbD - Punjab
Poly A Site
IVS II - 837 ( T > G )
- 28 ( G - A)
- 90 ( C - T )
COD 15 ( -T )
IVS I 25 – bp

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