Every year, 8th of May is celebrated as World Thalassemia Day. ‘Thalassemia Major’ is a genetic disease that occurs when a child inherits two mutated genes, one from each parent. The disease will create severe anemia and also affect the bone marrow’s ability to produce RBC which ultimately leads to death within the first decade of life, if proper treatment is not given to the child.
“India reports an average of 10,000* children born with Thalassemia major every year. The disease which is inherited is passed on to 25 % of the offspring when both the parents are carriers of the mutated gene. This development of the abnormality in the embryo happens at the conception stage, hence, the parents are not aware whether the child is at risk as it poses no health issues to them. Awareness plays a major role in Thalassemia which is currently lacking in most couples. Child with Thalassemia is called Thalassemia major and requires blood transfusion at regular intervals and the only approach to cure this hemoglobin disorder is bone marrow transplantation with suitable donors.
Today, with the advancements in science and medical care, couples who are at risk of carrying inherited diseases can take to Pre-Implantation Genetic Diagnosis (PGD) Testing to help reduce the chances of passing on the faulty gene to their child. PGD testing happens after the IVF procedures and is an effective method to detect and rule out specific diseases and abnormalities in the embryo. An abnormal embryo can lead to miscarriage, fetal death later in the pregnancy or sometimes result in stillbirth. Post the fusion of gametes in IVF, the health of the embryos are checked through PGD. Pre-implantation genetic diagnosis is a method of studying the chromosomal balance and identifying the presence of a genetic defect in an embryo before it is implanted into the womb. This helps in improving the chances of a healthy pregnancy and baby.
Human leukocyte antigen (HLA) typing (a system used for matching bone marrow donors) along with PGD helps in conceiving a child who is disease free and can donate cord blood or haematopoietic stem cells for transplantation to save an affected sibling. Haematopoietic stem cell transplantation (HSCT) from related matched donors improves overall survival compared to unrelated or non-matched donors. Since HSCT from related matched-donors is unavailable for 70% of patients, IVF for PGD-HLA is a relevant clinical option. This can help couples give birth to a savior sibling for saving an older child affected by the disease.”
At Nova IVI Fertility, they implement the latest in medical technology to help their patients fulfill their dreams of having a healthy child and prevent foreseeable diseases in their children.