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Raising Awareness: Unveiling the Faces of 7 Rare Diseases in India

NextEdge Admin

18 Apr 2024

6 min 26 sec

Rare Disease,India,Haemophilia,Thalassemia,Sickle cell disease

Haemophilia is the most prevalent severe hereditary haemorrhagic disorder, inherited in an X-linked recessive pattern. Haemophilia A and B are caused by deficiency or dysfunction of the factor VIII and factor IX proteins. Haemophilia A is caused by a mutation in the HEMA (F8) gene located on the X chromosome. Haemophilia B is caused by a defect in the F9 gene, which results in insufficient factor IX production. For diagnosis of haemophilia screening tests and clotting factor tests are done. NGS has also been used for genetic analysis of bleeding disorders. The most effective way to treat haemophilia is to replace the missing blood clotting factor, allowing the blood to properly clot. This is commonly done by injecting clotting factor concentrates, into a patient’s vein. Other treatment products include ”Hemlibra” which works by replacing the function of factor VIII (8), ”DDAVP® and Stimate” these two medications release factor VIII (8) from where it is stored in the body tissues, ”Amicar” it prevents the breaking of blood clots. Despite following prophylactic intravenous infusions patients continue to encounter spontaneous bleeding incidents. Novel therapies are changing the clinical management of haemophilia. ROCTAVIAN (valoctocogene roxaparvovec-rvox) is a onetime viral vector-based gene therapy used for the treatment of adults with severe Haemophilia A without pre-existing antibodies to the virus, AAV5. FDA has approved another gene therapy, HEMEGENIX (etranacogene dezaparvovec-drlb) which is an adeno-associated virus-based gene therapy used for the treatment of adults with Haemophilia B who are currently on prophylaxis therapy. This is also administered only once as a single intravenous infusion.

Thalassemia is autosomal recessive disorder caused by mutations or deletions of the Hb genes resulting in underproduction or absence of alpha or beta chains leading to ineffective erythropoiesis. Alpha thalassemia is caused by deletion of alpha globin gene leading to absence or reduced production of alpha chain. Beta thalassemia occurs due to point mutations in the beta globin gene. Genetic testing helps in evaluation of what type of thalassemia is present. Treatment of thalassemia depends on the type and seriousness of the disease. Blood transfusions are routinely done to treat moderate or severe forms of thalassemia. Iron chelation therapy and bone marrow transplantation are also performed. Each of these treatments comes with its own set of risks and adverse effects. Gene therapy is the latest innovation in therapeutic management of thalassemia. Zynteglo is a onetime gene therapy which is used to treat paediatric and adult patients with Beta thalassemia. Zynteglo is made using patient’s blood stem cells by adding functional copies of Beta globin gene.

Sickle cell disease is a group of inherited red blood cell disorders caused by single base pair point mutation (GAG to GTG) in beta globin gene that changes amino acid valine for glutamic acid at the sixth position of beta chain of haemoglobin, protein that carries oxygen. In sickle cell disease red blood cells become sickle shaped and block the blood flow through the body resulting in pain and organ damage. Sickle cell anaemia (HbSS) is one of the most severe forms of the disease and is caused by inheritance of two gene one from each parent that code for haemoglobin S. For diagnosis, blood testing and genetic testing involving prenatal and neonatal screening are done. Sickle cell disease can be cured by bone marrow transplantation, however finding donors is difficult and the process has potential side effects. Several new treatments have been explored such as genetic therapies. Casgevy and Lyfgenia are the first cell-based gene therapies for the treatment of sickle cell disease (SCD) for patients 12 years and older. Casgevy is the first FDA-approved cell-based gene therapy that utilizes CRISPR/Cas9 for the treatment of sickle cell disease. Lyfgenia utilizes a lentiviral vector (gene delivery method) for genetic modification. Patients who have received Casgevy or Lyfgenia will be observed in a long-term study to determine the product’s safety and efficacy.