Services >> Clinical and Laboratory Services >> Haemoglobin Disorders

In this area we have more comprehensive service available anywhere in the country. Apart clinical evaluation and advice, we provide complete molecular genetic diagnosis for all haemoglobin disorders including prenatal diagnosis for prevention of the disease and bone marrow transplantation to cure those who affected by it. Dr. R.V. Shaji did his Phd on beta thalessemia intermedia and Dr. Eunice Sindhuvi on Haemoglobin E disease.

We are now offer molecular diagnosis for the following disorders.

• Thalassaemia
• Sickle-cell disease
• Delta/Beta Thalassemia
• Lepore
• Hemoglobin E
• Hemoglobin D

List of Tests

• Analysis of different haemoglobins and their relative quantitation by cation exchange HPLC.
• Screening of nine common mutations [Codon 8/9(+G), Codon 15(GàA), IVS-I-1(GàT), Codon 30 (GàC), IVS-I-5(GàC), IVS-I-1(GàA), Codon 41/42 (-TCTT), Codon 26(GàA) (bE) and Codon 6 (AàT) (bS)] by Reverse Dot Blot (RDB).
• Screening of 619bp deletion by PCR.
• Screening of δβ thalassaemia by GENESCAN and MLPA analysis
• Screening for rare mutations causing thalassaemia, abnormal haemoglobins by DNA sequencing.
• Screening of eight common deletions (-a3.7, -a4.2, --SEA, --THAI, --20.5, --MED, --FIL, --SA) causing alpha thalassaemia by Multiplex-PCR and agarose gel electrophoresis.
• Screening of point mutations in alpha thalassaemia by DNA sequencing.
• Analysis of -158 Gγ (CàT) XmnI polymorphism.
• Antenatal diagnosis for β-thalassaemia

Glucose-6-Phosphate Dehydrogenase (G6PD)

Mutation screening of the coding regions of the G6PD gene by multiplex PCR and CSGE.

Gilbert’s Syndrome

The polymorphism in the UDP-glucuronyl transferase 1A1 (UGT1A1) gene is screened by PCR and Genescan.

Sample requirement/ turn around time