Couples with autosomal dominant or recessive disorders have a significant chance of conceiving a pregnancy that has serious genetic consequences. Beta thalassaemia is one such disorder that is endemic in Malaysia and Southeast Asia.
Thalassaemia, in general, constitutes a public health problem in Malaysia. It is estimated that 350 babies are born each year in this country with blood transfusion dependent thalassaemia major. This number will cumulatively increase each year posing enormous social and economic hardships not only to patients and families but also to the government in ensuring optimal care for the existing population of thalassaemia major.
Most of the thalassaemia major patients succumb to a miserable, depressing and painful existence. Their lives are centred around the hospital environments. Regular blood transfusion, transfusion transmitted illnesses, iron overload, general debility and ill-health mar their lives. Loss of education, employment, depression and despair add to their miseries.
Haematopoietic Stem Cell Transplantation (HSCT) from a healthy HLA-compatible marrow donor or cord blood, preferably from a sibling, maybe the best treatment option or the only potential cure for patients with beta-thalassaemia to restore normal blood cell formation (haematopoiesis). Many patients remain unable to receive this treatment because of the difficulty of finding an HLA-matching donor within the immediate and extended family. Thus, patients with nonsibling donors and patient without donors may benefit from Saviour Sibling Program (SSP).
Saviour Siblings are children who are born through in-vitro fertilisation whose tissue (HSC from the cord blood) will be donated so that a brother or sister will be saved from the life-threatening genetic disorder.
Moving beyond routine preimplantation genetic testing for aneuploidy (PGT-A) and preimplantation genetic testing for mutations (PGT-M), Alpha Fertility Centre now offers pre-implantation genetic testing for HLA (PGT-HLA), to help parents conceive a child who is a tissue (HLA) match with their older sibling. During the birth of the saviour sibling, the umbilical cord blood which is rich in stem cells (otherwise considered a waste material) is harvested and infused to the moribund child to restore normal blood cell formation.
Alpha Fertility Centre is the first and only IVF centre in Malaysia that offers NGS-based high-resolution HLA genotyping on embryonic biopsies to select embryos that are chromosomally healthy (PGT-A), disease-free (PGT-M) and HLA matching (PGT-HLA) for the sick sibling. All three genetic tests are done on a single biopsy sample.
Diseases that may benefit from SSP
|Beta thalassaemia major||HBB|
|X-linked adrenoleukodystrophy (X-ALD)||ABCD1|
|Hyper IgM syndromes||TNFSF5|
|Hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID)||EDAR|
|Leukaemias and Lymphomas||Multiple genes involved|
|Aplastic Anaemia||Multiple genes involved|
|Paroxysmal Nocturnal Haemoglobinuria (PNH)||PNH1 and PNH2|
|Severe combined immunodeficiency||SCIDX1|
Preimplantation Genetic Testing for HLA has been developed, validated and applied clinically at Alpha Fertility Centre.
If you are planning to have a second child, have the second child who will be able to “save” your first child by having a disease-free and a matched tissue type using reproductive technologies.