Morphologic Anemias?

What are the major features of Anemias Due to Defective

Hemoglobin Synthesis (Microcytic Anemias)

Iron Deficiency Anemia?

What are the Major features of B Thalassemia minor?

• Asymptomatic

• Morphology and Lab features– Microcytic hypo chromic or normochromic red cells, target cells– Erythrocytosis– Low MCV and MCHC, or low MCV and normal MCHC– Hb electrophoresis HbA1 normal, increase in HbA2, +/- increase in

HbF 

• Characterized by reduced synthesis (alpha+ thalassemias) or absent synthesis (Alpha° thalassemia) of alpha-globin chains.

• Since there are normally four alpha globin genes, the severity of the clinical syndromes shows a great variation, depending upon the number of affected alpha globin genes.

Give me an overview of B thalassemia minor?

• Two genes from each parent

• Deletion of genes most common

• Reduced synthesis of alpha chains.

• Excess (Hb Bart) or (Hb H) chains precipitate causing red cell damage.

What are the clinical syndromes for A Thalassemia?

• Clinical Genotype Disease

• Silent carrier-a Iaa None

• Trait-a/-a Similar to B Thal minor

• HbH Disease Severe, resembles B Thal intermedia

• Hydrops Lethal in uteroHb baits

How do you diagnose A thalassemia?

• Hb electrophoresis is normal in silent carriers and trait

• HbH and Barts (fast), inclusions in HbH

• Exclude other causes of microcytic hypochromic anemia

• Treatment: Similar to B Thalassemia

What is the Pathophysiology of Megaloblastic anemia?

• Defective DNA synthesis and normal RNA and protein synthesis

• Myeloid cells and non-hematopoietic rapidly proliferating cells are affected

• Ineffective hematopoiesis (RPI < 2)

What is the etiology and clinical features of Megaloblastic

anemia?

• Etiology:

– Vitarnin B12 and folate deficiencies, drug induced (chemotherapy).

• Clinical Features:– Symptoms and signs of anemia in general.– Yellow skin discoloration– Dyspepsia and glossitis– neurological symptoms (Vitamin B12)

• Peripheral blood Pancytopenia– Macroovalocytes (MCV >100), Howell-Jolly bodies and hyper

segmented neutrophils

• Bone marrow morphology Megaloblastic changes, giant bands

What is the structure and source as well as the requirements for

Vitamin B12 Deficiency?

• Structure and source- Cobalamine. Exclusive source is dietary animal products (e.g. eggs, milk, meat).

• Requirements: 2-3 ug/day, – 70% of uptake is absorbed (terminal ileum)– stores are 5000 ug mostly in liver (50%)– kidney and heart (50%) enough for several years.

What are the laboratory features of Vitamin B12 deficiency?

• Low serum Vitamin B12 level

• Low red cell folate level

• Increased urinary excretion of methylmalonic acid

• Ineffective erythropoiesis: increased indirect bilirubin and urobilinogen, increased LDH enzyme, increased serum iron levels.

What is pernicious anemia?

What are the major features, the structure and source and the

requirements for folate deficiency?