Thalassaemia · Sickle Cell · Carrier Screening
Cheq your partners DNA BEFORE you tie your knot
Your DNA your story.
Haemoglobin disorders are autosomal recessive — carriers are completely healthy and have no symptoms. Two carriers can only be identified through a blood test. When two carriers marry, every pregnancy carries a 1-in-4 chance of producing a severely affected child.
Pre-marital genetic screening identifies this risk before conception, giving couples full information and reproductive choices — including prenatal diagnosis, PGT-M, or adoption.
| Condition | Test Used | Risk (Both Carriers) |
|---|---|---|
| Beta Thalassaemia | HPLC + Genetic mutation panel | 25% per pregnancy (Thal Major) |
| Sickle Cell Anaemia | HPLC + HbS mutation confirmation | 25% per pregnancy (SCD) |
| G6PD Deficiency | Enzyme assay + molecular testing | 50% of sons affected (X-linked) |
| Spinal Muscular Atrophy (SMA) | SMN1 copy number analysis | 25% per pregnancy (severe) |
| Cystic Fibrosis | CFTR mutation panel | 25% per pregnancy |
| Test | Approx. Cost | Notes |
|---|---|---|
| HPLC (Haemoglobinopathy screen, per person) | ₹ 800 – 1,500 | Primary carrier screen — start here |
| Couple Package (HPLC x2 + Counselling) | ₹ 3,000 – 4,500 | Best-value entry for both partners |
| Beta Thalassaemia Mutation Panel | ₹ 3,500 – 6,000 | Identifies exact mutation for prenatal diagnosis |
| Sickle Cell (HbS) Confirmation | ₹ 2,000 – 3,500 | Molecular confirmation of HbS variant |
| G6PD Enzyme Assay | ₹ 600 – 1,200 | Especially relevant for male partners |
| SMN1 Copy Number (SMA Carrier) | ₹ 4,500 – 7,000 | Recommended for North Indian communities |
| CFTR Panel (Cystic Fibrosis) | ₹ 5,000 – 8,000 | Punjabi / NW Indian ancestry |