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16
Apr

Alison Morales Haemophilia

Umbilical cord blood has been used to diagnose haemophilia in newborn babies for years. (1) Now scientists are developing a treatment for the blood disorder using stem cells found in the umbilical cord itself.

haemophilia diagram

What is haemophilia?

Haemophilia is a life-long, hereditary blood disorder in which bleeding lasts longer than normal. Due to a recessive gene pattern, haemophiliacs are deficient in the proteins required for blood clotting, making them especially vulnerable to the smallest of injuries. Haemophiliacs must undergo repeated injections of clotting factors to stay healthy.

The genetic mutation that causes haemophilia is carried via the X chromosome from generation to generation and is therefore far more common in males than females. Alison, a mother from Sydney Australia, inherited the gene from her haemophiliac father. Whilst she is not a haemophiliac, Alison carries the recessive gene and has passed the condition on to two of her four children. Thomas (pictured above) is accustomed to his regular injections, but may not need to take them throughout his life as his grandfather did, thanks to advances in regenerative medicine.

Stem cell treatments for haemophilia

Scientists now believe stem cells could offer a curative treatment for haemophilia. In this therapy, clotting is enabled and spontaneous bleeding is prevented by transplanting protein-producing stem cells into the patient.

Doctors Sokal, Lombard and Mazza wrote in 2015 that “Liver-derived stem cells are already being assessed in clinical trials for inborn errors of metabolism and, in view of their capacity to produce FVIII and FIX in cell culture, they are now also being considered for clinical application in haemophilia patients.” (2)

Stem cells from other parts of the body may also be used to treat haemophilia: “Several reports have demonstrated the capacity of bone marrow stem cells (BMSCs) to trans-differentiate into hepatocytes and liver sinusoidal endothelial cells (LSECs)… Thus, BM- stem cell therapy is a potential alternative approach to managing haemophilia.” (3) Indeed, in 2016 an article describing the outcomes of a number of patients treated with bone marrow stem cells reported the successful treatment of a four-year-old boy. (4)

Umbilical cord stem cells

The umbilical cord is a rich source of mesenchymal and haematopoietic stem cells. So far, the efficacy of stem cells from the umbilical cord for treating haemophilia is untested and it will be many years until we know whether our babies’ umbilical cords hold the key to treating this disease. Given that cord blood stem cells can successfully treat blood diseases such as Leukaemia and even cure comparable disorders such as Sickle Cell Disease it is far from fanciful to imagine that haemophilia will one day be routinely treated with umbilical stem cells.

Find out how to store your child’s stem cells

Sources

(1) Testing for Haemophilia

(2) Mesenchymal stem cell treatment for haemophilia: a review of current knowledge. Journal of Thrombosis and Haemostasis, 13

(3) Neelam Yadav, Bone marrow stem cell therapy for haemophilia A disease, 2014e

(4) Successful Allogenic Haematopoietic Stem Cell Transplantation in a Boy with Hemophilia A and MDS-RAEB

(5) Hemophilia A Patients May See Promising Future Therapy in Embryonic Stem Cell Transplant

Image and story of Alison and Thomas Morales