Thalassemia syndrome is one of the most common single disorders in humans inherited as autosomal recessive symptoms. It was first described by Cooley and Lee in 1925 and is also known as Cooley’s anemia. These quantitative, hereditary diseases are caused by imbalances in the synthesis of globin chains. Normally the synthesis of 2 and 3 globin chains is integrated so each 2 chain has 2 globin pairs. In thalassemia, the synthesis of α or β globin chain is defective. Red cell life is shorter in children with thalassemia, fetal hemoglobin in red cells persists longer than normal, and red cells are more susceptible to oxidative stress.Also read – Esha Gupta’s intense workout and fitness regime will inspire you to get in shape – watch the video
Event:
There are approximately 240 million carriers of β-thalassemia worldwide and in India alone; The number is about 30 million. Approximately 100,000 thalassemia major babies are born worldwide each year, of which 10,000 are born in India. વ્યા The prevalence of thalassemia gene varies from 0 to 17 percent in different ethnic groups, with an average of 3.5 percent. 4 β Thalassemia is more prevalent in Punjabi, Sindhi and Gujarati, Marwari, Lohana, Bengali and Jain populations. . Three main forms have been described: thalassemia major, thalassemia intermedia and thalassemia minor. Individuals with thalassemia major usually present in the first two years of life with severe anemia, which requires regular red blood cell transfusions. Findings in individuals with untreated or poorly transfused thalassemia major are skeletal changes caused by growth retardation, paleness, jaundice, hepatosplenomegaly, leg ulcers, development of people with extramedullary hematopoiesis, and bone marrow enlargement. Diagnosis of thalassemia is based on hematologic and molecular genetic testing. Also read – From eggs to bread: Foods that are safe to eat even after their expiration – watch the video
Treatment strategy
It mainly involves the management of complications related to regular blood transfusions and iron overload. The decision to start a routine transfusion program in a newly diagnosed child with thalassemia should take into account both laboratory and clinical findings. If the child is growing poorly and has developed facial or other bone disorders, and / or when the Hb level is <7 g / dL, regular bleeding will be beneficial. Also read – Does drinking lemon water on an empty stomach help in weight loss? Search.
Iron overload is the most common cause of illness and mortality in children diagnosed with thalassemia major and regular blood transfusions. Due to the increased activity of the bone marrow, the body absorbs the increased amount of iron. Excess iron-binding proteins such as lysosomes also increase cell concentrations of ferritin and hemosiderin complexes. Initiate non-transferrin-bound-iron (NTBI), free radical reactions. Iron loading in the liver can be detected after about six months of menstrual bleeding, while cardiac loading takes about eight to ten years. However, once it starts, the iron loading on the heart happens very quickly. Cardiac complications are the leading cause of death in transfusion iron overload. Proper management prevents bone marrow hyperactivity and delays the appearance of hypersplenism. Hence the focus of the problem has shifted to better chelation therapy.
Monitoring iron overload is crucial, including the various techniques outlined below.
- Serum ferritin
- T2 * or R2 * MRI: Non-invasive, easy availability, accurate and reliable
The advent of chelation therapy in the 1960’s was a milestone in the treatment of such children. Effective iron chelation has reduced the incidence of hemorrhagic patients and significantly increased their average survival age. Currently available treatments approved in India:
- Deferoxamine
- Deferipron
- Differesirox
Defroxamine has been the “gold standard” iron chelator since 1963 and has been shown to reduce iron-related morbidity and mortality. 12 Unfortunately, adherence to subcutaneous infusion is a severely limiting factor in treatment success.
Deferipron is an oral iron chelator used in India for about 20 years. Although the total excretion of iron with deferipron is slightly lower than that of deferoxamine, it has a better cardioprotective effect. However, some side effects such as arthropathy and agranulocytosis etc. limit its use despite the ease of oral administration.
Deferasirox is the first oral iron chelator approved by the FDA in November 2005 and the Drug Control General of India (DGCI) in the USA in 2008.
Rule 10 in Thalassemia Major
- Aim to maintain hemoglobin> 10
- Keep ferritin <1000
- Perform all annual assessments to check heart, liver and hormones after 10 years.
Dr. Inputs from Chintan Vyas, Consultant Hematology, Jaslok Hospital and Research Center
