The management and treatment of thalassemia patients depends on the extent of the severity
Rimo Das, two, with thalassemia, drinks milk on his mother’s lap in an NGO office in Calcutta. Reuters
Thalassemia is an inherited genetic blood disorder that results from reduced synthesis of a protein called hemoglobin, an important part of red blood cells. Hemoglobin serves as an oxygen-carrying vehicle for red blood cells and is made up of two different proteins, an alpha and a beta.
Optimal oxygen is a kind of food that body cells use to function properly. Due to defective hemoglobin (genetic mutation or deletion of a gene fragment), there is a shortage of enough healthy red blood cells in the body, which leads to suboptimal oxygen supply to various cells . This causes anemia that begins in early childhood and can cause feeling tired, weak or short of breath, faster heart rate and pale skin. It affects 1 in 100,000 newborns per year on average worldwide, with a higher incidence in Mediterranean countries, China, India and Southeast Asia.
Thalassemias are basically classified into two main types, alpha and beta thalassemia. Alpha-thalassemia is caused by deletion of the alpha-globin gene, resulting in a decrease or complete absence of alpha-globin chains, while beta-thalassemia results from point mutations in the alpha-globin gene. beta-globin. The severity of thalassemia is noted with words like trait, carrier, intermediate, or major.
A person who has the thalassemia trait or who is a carrier (single mutation) may not have any symptoms. The type of thalassemia a person has depends on the number or type of thalassemia they inherited from their parents. For example, if a person receives one beta-thalassemia trait from their father and another from their mother, they will be considered beta-thalassemia major. If a person receives an alpha thalassemia trait from their mother and the normal alpha genes from their father, they would be considered to have alpha thalassemia minor. These patients are asymptomatic but may carry these genes for their respective children. Health complications are mostly seen in patients with thalassemia major and intermedia.
Accurate and timely diagnosis plays an important role in overall patient management. Routine blood tests, hemoglobin tests, and family molecular studies can show if a person has thalassemia or is a carrier. In fact, the concept of expanded carrier screening using high-end genomic testing using next-generation sequencing for thalassemia, hemoglobinopathies, and other genetic disorders is already garnering considerable attention lately.
Screening for those at increased risk of being carriers of thalassemia can identify couples with a 25% risk of having a baby with an important genetic condition for which a prenatal diagnosis is likely. If both parents are carriers, they can see a well-trained genetic counselor who can help determine whether to conceive or have a fetus evaluated for thalassemia. This approach can be very effective in preventing and reducing the incidence of thalassemia major.
Prenatal screening can be done around the 11th week of gestational age by performing genomics-based (alpha and beta gene) mutation analysis on DNA extracted from chorionic villi or amniotic fluid after 16 years.and at 18and week of pregnancy. Besides, in vitro fertilization is also a good option for carriers who do not want to risk giving birth to an adult child with thalassemia. Newer techniques such as preimplantation genetic diagnosis, used in combination with in vitro fertilization, can help parents with thalassemia or carriers of the trait to give birth to healthy normal children without the disease. the in vitro fertilized embryos can be subjected to DNA mutation analysis at 5and cell stage for the thalassemia gene before its implantation, selecting only normal embryos.
The management and treatment of thalassemia patients depends on the extent of the severity. Treatment for people with more severe disease often includes regular blood transfusions, iron chelation, and folic acid. Thalassemia patients who do not respond well to blood transfusions may be prescribed hydroxyurea.
More recently, a breakthrough development in the care of thalassemia patients has been reported by an international phase 3 clinical trial from Rome and phase The group of researchers used “gene therapy” (a technique that modifies the genes of a person to treat or cure the disease) to treat the patient with severe beta-thalassemia. During this process, the fully functional good beta chain genes were added to the patient’s body after eliminating the abnormal hematopoietic stem cells carrying the faulty genes.
The patients in the trial have been followed for years and their normal hemoglobin production is stable, indicating that gene therapy offers a viable cure for beta-thalassemia. Another alternative approach that is currently being explored to repair the faulty gene is the use of CRISPR (a technique that helps edit the gene). Although these recent techniques appear promising, their high cost and the necessary infrastructure requirements may limit their availability globally. Nevertheless, these developments certainly show glimmers of hope for thalassemia. There are exciting times to come and we just need to keep going.
The author is Section Head, Molecular Pathology, Department of Molecular Genomics, SRL Diagnostics. Views are personal.
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