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.
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).
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.
| 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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