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46. HEMOGLOBINOPATHY. SICKLE CELL ANEMIA. THALASSEMIA IN INDIA AND KYRGYZSTAN.
Authors & Affiliation
1. Bugubaeva makhabat mitalipovna
2. Gayatri Mahadeo chavhal
(1. Teacher, International Medical Faculty, Osh State University, Osh, Kyrgyzstan)
( 2. Student, International Medical Faculty, Osh State University, Osh, Kyrgyzstan)
ABSTRACT
Hemoglobinopathies are most common inherited diseases around the world. it is a group of genetic disorders affecting the structure and production of hemoglobin, it includes sickle cell anemia and thalassemia syndrome.They have become much more common recently in northern and central Europe, including Germany, due to immigration. Here in this article we are going to summarise all the reasons and government measures.
INTRODUCTION
Hemoglobinopathy it is a group of inherited blood disorders where the body either produces abnormal hemoglobin or not enough hemoglobin, which is the protein in RBCS that carries oxygen. In children, this can lead to conditions like sickle cell disease and thalassemia, resulting in symptoms such as anemia, fatigue and pain. Early and accurate diagnosis through newborn screening is crucial for a child to receive timely treatment, which may include medications, blood transfusions, and other therapies to manage symptoms and prevent future serious complications
Sickle cell anemia it is a hereditary blood disorder which affects the structure and function of hemoglobin, the protein in RBCs responsible for carrying oxygen throughout the body.In children, sickle cell anemia often manifests early in life, typically after the age of six months, when fetal hemoglobin levels decrease. Affected children may suffer from recurrent episodes of pain, severe anemia, delayed growth, increased risk of infections, and complications involving vital organs such as the spleen, brain, and lungs.Sickle cell anemia is most common in regions where malaria is or was historically prevalent, such as sub-Saharan Africa, India, the Middle East, and parts of the Mediterranean.
Thalassemia it is a genetic blood disorder seen mostly in children, where the body makes less or abnormal hemoglobin, leading to severe anemia. Affected children often look pale, feels weak, and may need regular blood transfusions. Early diagnosis and proper medical care help them to live healthier lives.
HEMOGLOBINOPATHY IN INDIA
Hemoglobinopathies are mainly β-thalassemia and sickle cell disease, are among the most common inherited blood disorders in Indian children. It is estimated that about 3–4% of India’s population are carriers of β-thalassemia, and around 1–2% carry the sickle cell gene. Every year, approximately 10,000–12,000 children are born with thalassemia major, and a similar number with sickle cell disease.
The prevalence varies widely across regions — β-thalassemia is more common in Punjab, Gujarat, west bengal and Maharashtra while sickle cell anemia is prevalent among tribal populations in Odisha, Madhya Pradesh, Chhattisgarh, and Maharashtra, kerala.
Improved newborn screening, carrier detection, and genetic counseling programs have helped to identify at-risk families, but many cases remain undiagnosed, especially in rural areas. Strengthening these programs is key to reducing the burden of hemoglobinopathies in Indian children.
SICKLE CELL ANEMIA IN INDIA
sickle cell disease in Indian children shows a pooled prevalence of 0.8% for SCD and 9.2% for sickle cell trait . Prevalence is significantly higher in tribal populations compared to non-tribal populations, with tribal children showing a higher rate of SCD (1.3%) and SCT (11.4%). Central and Eastern India report higher disease burden, with states like Madhya Pradesh and Odisha having particularly high rates. India accounts for a substantial portion of the global burden, with an estimated over 42,000 newborns affected annually.
The high prevalence is reported in the Central and Eastern zones of India.Madhya Pradesh and Odisha have a high burden of SCD .Global impact: India contributes significantly to the global burden, estimated at 14.5% of newborns with SCD worldwide, which is over 42,000 babies annually.
THALASSEMIA IN INDIA
Thalassemia is a significant public health concern in India, particularly affecting mostly children. The country has the highest number of children with thalassemia major globally, with estimates ranging from 100,000 to 150,000 cases. Annually, approximately 10,000 to 15,000 infants are born with thalassemia major in India
In North Eastern States: High carrier rates of HbE, with some areas reaching up to 50%.Southern, Central, and Western States: Elevated prevalence of HbS among tribal populations, with carrier frequencies as high as 48% in certain communities.In Punjab Accounts for nearly 6% of the national burden, with 257 registered cases, including 87 children under 12, as of July 2025.
HEMOGLOBINOPATHY IN KYRGYZSTAN
Hemoglobinopathies, like beta-thalassemia minor, are present in Kyrgyzstan, with thalassemia trait and iron deficiency anemia being frequent causes of microcytic anemia. One study found beta-thalassemia minor was the most common abnormal hemoglobin among the hemoglobinopathies examined, with other variants like alpha-thalassemia trait and hemoglobin D-Punjab also identified. Some individuals have a combination of hemoglobinopathies and IDA. in Kyrgyzstan found that 54.7% had some type of hemoglobinopathy.
Kyrgyzstan's having high-altitude environment may influence hematological features, as previously identified in similar populations.Living at high altitudes can lead to lower arterial oxygen saturation, higher RBCS counts, and higher hemoglobin concentrations.This environmental factor is distinct from the genetic basis of hemoglobinopathies but interact with an individual's overall health.
THALASSEMIA IN KYRGYZSTAN
In Kyrgyzstan, thalassemia—a hereditary blood disorder characterized by impaired hemoglobin synthesis—is a major public health problem. Its prevalence ranges from 0.4% to 1%.in someone .In Kyrgyzstan, such marriages are common in some ethnic groups. A global systematic review of thalassemia (1990-2021) reports that for Kyrgyzstan the age-standardised prevalence rate (ASPR) was about 0.0627 per 100,000 persons.
Giving breakdowns by region (within Kyrgyzstan), by subtype (α- versus β-thalassemia), by carrier frequency, or by ethnic group.
ENVIRONMENTAL FACTORS AFFECTING HEMOGLOBINOPATHY
India include socioeconomic and geographical isolation, in which it limit healthcare access, and nutritional deficiencies, particularly vitamin B12 and folate, which can impact hemoglobin levels and disease outcomes. Additionally, there are links to environmental exposures like lead, which can worsen anemia, and co-infections, especially malaria, which exacerbate the effects of hemoglobinopathies in certain regions.Also affected by nutritional deficiencies, infections and lead exposure
Nutritional Deficiencies in vitamin B12 and folate are associated with low levels of HbA2 and can negatively affect hemoglobin levels.Infections like malaria, significantly influence the outcomes of hemoglobinopathies in area where they are endemic
CONCLUSION
India has a high burden of haemoglobinopathies. Because of the large population, even moderate carrier frequencies translate into large absolute numbers needing care.The challenges are: ensuring widespread screening (including remote/tribal areas), genetic counselling, affordable treatment and managing long-term complications. Effective prevention and care systems are critical to reduce future burden.Kyrgyzstan have a moderate documented burden of haemoglobinopathies compared to India. The country might benefit from strengthening surveillance, implementing targeted screening (especially in high-risk ethnic groups or regions), ensuring diagnostic capacity, and integrating genetic counselling into health services. Burden: India >> Kyrgyzstan in documented prevalence and absolute numbers.
REFERENCES
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