An estimated 1 in 20 Malaysians are Thalassemia carriers, but a new procedure called preimplantation genetic diagnosis offers hope for couples with the Beta Thalassemia major gene to conceive a healthy child.
Thalassemia is an inherited genetic disorder in which the makes form of hemoglobin. Hemoglobin is the protein molecule in blood cells that carries oxygen to all parts of the body. People with thalassemia symptoms have excessive destruction of red blood cells, resulting in anemia and other completions.
"If a baby has an alpha Thalassemia major, it usually dies at about seven months into pregnancy. A child with beta Thalassemia major meanwhile, will usually live up to 17-years-old; keeping them alive requires frequent blood transforms, at least once a month,” he says.
If both parents are Thalassemia carriers, there is a 25% chance of their baby having the diseases itself. a 25 % chance Of the baby being completely free from the disease; and a chance of the baby being a carrier of the mutated gene. "
It has been estimated by the Thalassemia Associated of Malaysia that the government spends about RM3 patient million on each Thalassemia patient from birth to 17 years of age. Here we have gone beyond prevention and into predictive medicine — knowing beforehand if a problem Can occur, Says Dr. Colin.
The predictive Dr. Colin is referring to as preimplantation genetic diagnosis or PGD,
What is PGD?
PGD involves the use of in-vitro fertilisation (IVF). The mother-to-be will first receive fertility injections to increase the number of eggs produced. These eggs are retrieved through a process called "oocyte aspiration-.", where a very fine and hollow needle is used to suck out the eggs.
The eggs are then fertilized with the father’s sperm and the embryos will be cultured to the fifth day. At this stage. the embryo is referred to as a blastocyst. Cells from the outer "shell" of the blastocysts are subsequently tested out and tested for the thalassemia gene.
"We will an embryo that is free front Thalassemia, and put it back into the womb. This way, we can prevent the propagation of an inheritable condition to the next generation - the child is spared, the family is spared, the family is spared, and the entire healthcare system is soared from the consequence of this disease," Says Dr. Colin.
The clinic also Carries out preimplantation genetic screening (PGS) alongside PGD, where the embryos are screened for chromosome abnormalities. " A high proportion of embryos produced by the human body are actually abnormal. This percentage ranges from as low as 40% for women below 25 years old, to over 90% for those above 40 years old," says Dr. Colin.
The latest technology enables both PGD and PGS to be done together, resulting in embryos with a higher chance of survival, Transforming an embryo using this technology results in pregnancy rates of about 70%." Currently, Malaysia is the only country in Asia that has a technology of doing both PGD and PGS & simultaneously.
Siblings who save:
While a bone marrow transplant may help beta Thalassemia patients, this treatment carries significant risks, including graft versus host disease, where the body rejects the transplanted cells.
"Finding a match is not easy; the odds could be as high as one in 10000 for unrelated donors. Even then, such a donor will not be a perfect match, " says Dr. Cdin.
Dr. Colin and his colleagues aim to remedy this through the clinic’s Saviour Sibling program.
In addition to testing an embryo for Thalassemia and screening its chromosomes, doctors will also test for HLA 27 (human leukocyte antigen) compatibility. Embryos which are a match for the elder Sibling are then selected to be transferred into the mother's womb.
"so when the baby is delivered, we can use the blood recovered from the umbilical cord to treat the sibling with Beta-Thalassemia Major, We are not playing creators but just facilitating something that can help patients, " Says Dr. Colin.