Introduction
Hemoglobinopathies constitute a major class of inherited blood disorders characterized by abnormalities in the structure, synthesis, or function of hemoglobin. Among these, thalassemia and sickle cell disease are among the most clinically significant inherited disorders worldwide.
Maharashtra, particularly tribal-dominated districts such as Nandurbar, has a high prevalence of inherited hemoglobin disorders due to genetic clustering, limited healthcare access, and socioeconomic challenges. This study was undertaken to assess the regional burden and management patterns.
Materials and Methods
This observational descriptive study was conducted in Nandurbar district, Maharashtra. Data were collected from 28 documented patient cases diagnosed with thalassemia and sickle cell disease.
Parameters analyzed included:
- Age distribution
- Gender distribution
- Symptom profile
- Diagnostic investigations
- Treatment duration
- Treatment modalities
- Medication usage
- Blood group distribution
Diagnostic Assessment
Diagnostic evaluation included conventional blood investigations and High-Performance Liquid Chromatography (HPLC), which served as a confirmatory diagnostic technique for hemoglobinopathy identification.
Results and Discussion
A total of 28 documented patient cases were analyzed. Demographic analysis showed higher prevalence among males (16 cases) compared to females (12 cases), with the highest burden in the 18–40 year age group.
Common symptoms included:
- Jaundice
- Fatigue
- Weakness
- Brittle bones
- Dark-colored urine
Diagnostic trends indicated HPLC as the most commonly used investigation. Treatment patterns included:
- Blood transfusion therapy
- Iron chelation therapy
- Supportive drug treatment
- Gene therapy approaches
Deferiprone was among the most commonly documented medications for iron overload management.
Conclusion
The study highlights the significant burden of inherited hemoglobin disorders in Nandurbar district, particularly among tribal and vulnerable populations. The findings emphasize the urgent need for improved screening, early diagnosis, genetic counselling, newborn screening, and better healthcare accessibility.
Continued advancements in diagnostics and treatment may significantly improve survival and quality of life for affected individuals.
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