Disease

Comprehensive Anemia Guide

The Comprehensive Anemia Guide provides an authoritative exploration of anemia types, including insights into bone marrow functions and the intricacies of iron deficiency anemia.

From Pathophysiology to Clinical Management

1. Definition and Overview

Anemia is a hematologic disorder characterized by:

  • Hemoglobin (Hb) levels below 13 g/dL (men) or 12 g/dL (women)
  • Reduced oxygen delivery to tissues due to:
    • Decreased red blood cell (RBC) production
    • Increased RBC destruction
    • Blood loss

Key Pathophysiological Concepts

Erythropoiesis: Bone marrow process regulated by erythropoietin (EPO)

Hemoglobin synthesis: Requires iron, globin chains, and porphyrin ring

2. Epidemiology

Global Burden (WHO Data)

Region Prevalence Affected Population
Worldwide 24.8% 1.62 billion people
Southeast Asia 48.7% Highest in women/children
Africa 46.3% Malaria-endemic regions

Indian Scenario (NFHS-5)

Population Prevalence Key Findings
Children (6-59m) 67.1% Iron deficiency predominant
Pregnant women 52.2% 30% of global maternal anemia
Elderly (>60y) 42.1% Chronic disease association

3. Classification and Types

A. By RBC Morphology (MCV-Based)

Anemia Classification:

├── Microcytic (MCV<80fL)
│ ├── Iron Deficiency
│ ├── Thalassemia
│ ├── Anemia of Chronic Disease
│ └── Sideroblastic

├── Normocytic (MCV 80-100fL)
│ ├── Hemolytic
│ └── Acute Blood Loss

└── Macrocytic (MCV>100fL)
├── B12/Folate Deficiency
└── Myelodysplasia

B. By Pathophysiological Mechanism

1. Hypoproliferative (Low reticulocytes)

  • Nutritional deficiencies (Fe, B12, folate)
  • Bone marrow failure

2. Hemolytic (High reticulocytes)

  • Intrinsic RBC defects
  • Extrinsic destruction

4. Iron Deficiency Anemia (IDA)

Pathogenesis

Stages of Depletion:

  1. Iron stores depletion (↓ ferritin)
  2. Iron-deficient erythropoiesis (↑ TIBC, ↓ serum Fe)
  3. Frank anemia (microcytic RBCs)

Diagnostic Approach

Test Result Clinical Significance
Serum ferritin <30 ng/mL Earliest marker
Transferrin saturation <16% Functional iron deficiency
RBC morphology Microcytic, hypochromic Pencil cells, anisocytosis

Management

Oral therapy: Ferrous sulfate 325 mg tid + vitamin C

IV options: Ferric carboxymaltose (15 mg/kg)

Monitoring: Reticulocyte crisis at 5-7 days, Hb ↑ by 1 g/dL/week

5. Anemia of Chronic Disease (ACD)

Key Features

Causes:

  • Chronic infections (TB, HIV)
  • Autoimmune disorders (RA, SLE)
  • Malignancies

Pathophysiology

Inflammation → Cytokines → Hepcidin↑ → Iron Sequestration
Cytokines → EPO↓ → Marrow Suppression

Diagnostic Criteria

Parameter ACD Pattern IDA Pattern
Serum iron ↓↓
Ferritin Normal/↑
TIBC

Treatment

  • Underlying disease control
  • ESA therapy (Epoetin alfa 50-100 U/kg TIW)
  • IV iron if functional deficiency present

6. Thalassemia Syndromes

Genetic Basis

Type Defect Clinical Severity
α-thalassemia α-globin gene deletion Silent → HbH disease
β-thalassemia β-globin mutations Minor → Major

Diagnostic Workup

  1. CBC: Marked microcytosis (MCV often <70fL)
  2. Hb electrophoresis:
    • β-thalassemia: ↑HbA2 (>3.5%), ↑HbF
    • α-thalassemia: HbH inclusions
  3. Genetic testing: Definitive diagnosis

Management

Transfusion-dependent:

  • Regular PRBC + iron chelation
  • Target Hb >9.5 g/dL

Curative: Allogeneic HSCT

7. Sideroblastic Anemia

Classification

  • Hereditary: X-linked (ALAS2 mutations)
  • Acquired:
    • Myelodysplastic syndrome (MDS-RS)
    • Toxins (lead, alcohol)

Pathognomonic Findings

Bone marrow:

  • Ring sideroblasts (>15% of erythroblasts)
  • Prussian blue stain shows perinuclear iron

Blood:

  • Dimorphic RBC population
  • Basophilic stippling

Treatment

  • Pyridoxine: 100-200 mg/day (X-linked forms)
  • Chelation therapy for iron overload
  • HSCT for MDS-associated cases

8. Diagnostic Algorithms

Microcytic Anemia Workup

[MCV<80]

├── Ferritin
│ ├── Low → Iron Deficiency
│ └── Normal/High → Hb electrophoresis
│ ├── Abnormal → Thalassemia
│ └── Normal → ACD or sideroblastic

9. Therapeutic Guidelines

Blood Transfusion Thresholds

Clinical Scenario Hb Threshold
Stable outpatient <7 g/dL
Cardiovascular disease <8 g/dL
Active bleeding <9 g/dL

10. Complications

Organ-Specific Effects

System Complication Management
Cardiac High-output failure Slow transfusions + diuretics
Endocrine Hypogonadism (thalassemia) Hormone replacement
Hepatic Cirrhosis (iron overload) Phlebotomy/chelation

11. Prevention Strategies

Population-Level

  • Iron fortification: Wheat flour, salt
  • Malaria prophylaxis: In endemic regions
  • Genetic counseling: For thalassemia carriers

High-Risk Groups

Population Intervention
Pregnant women 60 mg elemental Fe + 400 μg folate
Elderly Annual CBC + nutritional screen

Key Takeaways

  1. Anemia is classified by RBC size (MCV) and underlying cause
  2. Iron studies differentiate between IDA, ACD, and sideroblastic anemia
  3. Thalassemia requires Hb electrophoresis for diagnosis
  4. Treatment must address both symptoms and underlying etiology

 

Medcardia team

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