STATUS OF THALASSEMIA AND SICKLE CELL DISEASE IN NANDURBAR DISTRICT: AN OBSERVATIONAL STUDY ON DISEASE BURDEN, CLINICAL PATTERNS, AND MANAGEMENT

By Om Vijay Hire, Akshada Vinod Nandedkar, Bhushan Chottu Mali, Dr. Vijay Patel

¹ Final Year B. Pharmacy, P.G. College of Pharmaceutical Science and Research, Chaupale, Tal. Dist. Nandurbar, Maharashtra, India
² Principal, P.G. College of Pharmaceutical Science and Research, Chaupale, Tal. Dist. Nandurbar, Maharashtra, India

Abstract

Thalassemia and sickle cell disease (SCD) are among the most prevalent inherited hemoglobin disorders globally and represent major public health concerns, particularly in low- and middle-income countries. India represents one of the major global burden zones for hemoglobinopathies, with particularly high prevalence among tribal and socioeconomically vulnerable populations. Maharashtra, especially tribal-dominated districts such as Nandurbar, carries a disproportionately high burden of sickle cell disease and thalassemia due to genetic, environmental, and socio-cultural factors.

The present observational study aimed to assess the status, disease burden, clinical manifestations, diagnostic approaches, and treatment patterns of thalassemia and sickle cell disease in Nandurbar district. Data were collected from documented patient observations involving 28 cases.

Keywords:

Thalassemia, sickle cell disease, hemoglobinopathy, Nandurbar district, Maharashtra, HPLC, blood transfusion, genetic disorders

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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