Sideroblastic Anaemia

Introduction

• Anaemia ek aisi condition hai jisme blood ke red blood cells (RBCs) ya unka haemoglobin kam ho jaata hai. Matlab, blood oxygen ko body ke organs tak theek se nahi le ja paata.
• Anaemia ke bohot types hote hain, unmein se ek special type hai Sideroblastic Anaemia.
• Isme problem ye hoti hai ki body ke paas iron to hota hai, lekin wo use nahi kar paata haemoglobin banane ke liye.
• Iron RBCs ke immature cells (erythroblasts) ke mitochondria mein jama ho jaata hai. Is wajah se RBCs normal tarike se develop nahi karte, aur anaemia ho jaati hai.

 

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Naam ka Matlab “Sideroblastic”

• “Sidero” ka matlab hota hai iron.

• “Blast” ka matlab hota hai immature cell.

• Bone marrow mein jab microscope se dekha jata hai aur special stain (Prussian blue) use hoti hai, to immature RBCs ke nucleus ke around iron ki ring bani hoti hai. Ye cells ring sideroblasts kehlate hain.

Isi wajah se disease ka naam rakha gaya Sideroblastic Anaemia.

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Normal Iron aur Haemoglobin Formation

Samajhne ke liye pehle dekhte hain ki normally haemoglobin kaise banta hai:

1. Iron khane se body mein aata hai aur small intestine se absorb hota hai.

2. Iron blood mein ek protein transferrin ke saath travel karta hai.

3. Ye iron bone marrow tak jaata hai jaha new RBCs bante hain.

4. RBC precursors ke mitochondria mein iron protoporphyrin ke saath jud kar haem banata hai.

5. Haem globin proteins ke saath judkar haemoglobin banata hai.

 

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Problem in Sideroblastic Anaemia

Is disease mein:

• Iron hota hai, lekin haem banane ke liye use nahi ho paata.

• Iron mitochondria mein atak jaata hai.

• Ye mitochondria nucleus ke aas paas ring ki tarah dikhte hain → ring sideroblasts.

• Haemoglobin nahi banta, isliye RBCs ya to chhote aur pale (microcytic hypochromic) hote hain, ya kabhi kabhi bade (macrocytic).

 

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Types of Sideroblastic Anaemia

1. Hereditary (Genetic)

• Parents se genes ke through hota hai.

• Sabse common: X-linked sideroblastic anaemia (ALAS2 gene defect).

• Ye enzyme vitamin B6 (pyridoxine) pe depend karta hai.

• High dose pyridoxine se improvement hota hai.

2. Acquired

• Zyada common hai.

a) Primary (Bone marrow disorder)

• • Mostly Myelodysplastic Syndrome (MDS) ke patients mein hota hai.

  • Especially “Refractory Anaemia with Ring Sideroblasts (RARS)”.

b) Secondary Causes

• • Alcohol – mitochondria ko damage karta hai.

  • Drugs – jaise isoniazid (TB drug), chloramphenicol, linezolid.

  • Lead poisoning – enzymes block karke haem synthesis rok deta hai.

  • Copper deficiency ya zinc excess bhi cause ban sakte hain.

 

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Symptoms and Signs

General symptoms of anaemia:

• Thakaan, kamzori

• Saans phoolna

• Chehre aur haath-pair pe safedi (pallor)

• Chakkar aana, headache

• Dil ki dhadkan tez hona

Dusre features:

• Liver aur spleen bada ho sakta hai (iron overload ki wajah se).

• Iron overload (secondary haemochromatosis) ke lakshan – diabetes, liver cirrhosis, heart problem, skin darkening.

• Agar lead poisoning hai to: pet dard, constipation, nerves ka problem, gums par blue line.

 

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Lab Tests aur Findings

1. Complete Blood Count (CBC):

   • Anaemia present hota hai.

   • RBCs kabhi microcytic, kabhi macrocytic, ya normal size ke ho sakte hain.

   • Blood smear: dimorphic picture (do tarah ke RBCs ek saath).

   • Lead poisoning mein basophilic stippling.

2. Iron Studies:

   • Serum iron: High

   • Ferritin: High

   • TIBC: Low ya normal

   • Transferrin saturation: Increased
     👉 Ye picture iron deficiency anaemia ke ulta hota hai.

3. Bone Marrow:

   • Marrow hypercellular hota hai.

   • Ring sideroblasts dikhte hain (diagnostic finding).

4. Others:

   • Blood lead level (agar suspicion ho).

   • Genetic test (hereditary cases ke liye).

   • Copper/zinc level check karte hain.

 

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Treatment

Treatment hamesha cause pe depend karta hai.

General:

• Alcohol band karna.

• Drugs/poison stop karna.

• Lead poisoning ka treatment.

• Copper deficiency ko correct karna.

Specific:

1. Vitamin B6 (Pyridoxine):

   • Hereditary cases mein helpful, especially X-linked type.

2. Blood Transfusion:

   • Severe anaemia mein diya jaata hai.

   • Lekin repeated transfusion se iron overload ho jaata hai.

3. Iron Chelation Therapy:

   • Iron overload remove karne ke liye (drugs: deferoxamine, deferasirox, deferiprone).

4. Erythropoietin / Luspatercept:

   • Myelodysplastic syndrome mein use hota hai.

5. Bone Marrow Transplant:

   • Rare cases mein, specially severe congenital cases ke liye.

 

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Difference between Sideroblastic vs Iron Deficiency Anaemia