Red Cell Disorders

Overview of Red Cells

• Red Cells: Essential for carrying oxygen in the blood. Contains hemoglobin and are produced in the bone marrow.

Production and Types of Cells

• Erythroblasts: Immature red blood cells that develop into mature red blood cells.

• Reticulocytes: Young red blood cells that are measured to assess bone marrow activity and new red blood cell production.

• Erythropoietin: Hormone produced in the kidneys that regulates red cell production.

Structure and Function of Red Cells

• Shape Importance: The biconcave shape maximizes surface area for gas exchange.

  • Abnormal Shapes: Disorders such as sickle cell anemia result in abnormal cell shapes affecting function.

Common Red Cell Disorders

• Iron Deficiency Anemia: Resulting from lack of iron, leading to microcytic red cells.

• Megaloblastic Anemia: Due to deficiencies in B12 or folate, leading to macrocytic red cells.

• Hemolytic Anemia: Can be inherited (e.g., thalassemia) or acquired.

Understanding Anemia

• Definition: Reduced oxygen-carrying capacity due to insufficient red cells or hemoglobin.

• Symptoms: Shortness of breath (SOB), tachycardia, pallor.

• Full Blood Count (FBC): A test to measure types of blood cells, helping diagnose anemia.

• Typical Reference Ranges:

  • Male: 135-180 g/L

  • Female: 115-160 g/L

Key Blood Indices

• MCV (Mean Corpuscular Volume): Measures average red blood cell size; normal range: 84-102 fL.

• RDW (Red Cell Distribution Width): Measures size variation in red blood cells; normal range: 11-15 fL.

Causes of Anemia

• Blood Loss: Acute and chronic sources such as ulcers or heavy menstruation.

• Nutritional Deficiencies: Lack of iron, vitamin B12, or folate.

• Chronic Disease: Conditions like renal failure can contribute to anemia.

Iron Metabolism and Deficiency Anemia

• Iron Sources: Dietary sources include meats, vegetables, and cereals.

• Ferritin, Hematopoiesis:

  • Ferritin: Main storage protein for iron, can be measured in plasma.

  • Hemosiderin: Insoluble form, indicates long-term iron overload.

  • Transferrin: Major iron transport protein delivering iron to cells, especially erythroblasts in the bone marrow.

• Symptoms of IDA: Fatigue, pallor, angular stomatitis, koilonychia.

Megaloblastic Anemia

• Vitamin B12 and Folate Deficiency:

  • B12: Vital for normal red blood cell production and nerve function.

  • Folate: Necessary for DNA synthesis; deficiency can cause symptoms like weakness and glossitis.

• Diagnosis: Low levels of B12 or folate, increased MCV.

  • Diagnostic tests include FBC, morphology, and specific vitamin level assays.

Hemoglobin Variants and Disorders

• Thalassemia: Genetic disorder causing reduced globin synthesis (alpha or beta thalassemia).

• Sickle Cell Disease (SCD): Caused by mutation in the beta-globin gene, leading to abnormal hemoglobin (HbS).

  • Clinical Features: Painful crises, increased infections due to spleen dysfunction, and chronic hemolytic anemia.

Treatment Strategies

• Iron Deficiency Anemia: Oral iron supplements for 3-6 months; treat underlying causes.

• Megaloblastic Anemia: Address the underlying cause; may require B12 injections and folate supplementation.

• Sickle Cell Disease: Manage crises, regular blood transfusions, hydroxycarbamide, and stem cell transplants in severe cases.

Assessment and Diagnosis

• FBC: Measure different blood components including RBC, WBC, hemoglobin, hematocrit, MCV, and platelets.

• Bone Marrow Analysis: Used in severe cases to identify underlying conditions.

• Electrophoresis and HPLC: For diagnosing hemoglobinopathies and determining types of hemoglobin in blood samples.

Case Studies

• Comprehensive blood work, clinical presentation, familial history, and laboratory investigations help diagnose specific types of anemia and disorders.

  • For example, a case study of a patient with symptoms of anemia includes assessment of blood counts and interpretation of lab results to guide diagnosis and management.