Microcytic Anemia

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Anemia

Back 1

reduction in oxygen carrying capacity resulting in decreased tissue oxygenation.
Measured as a dcrease in RBC, Hgb, or Hct

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Sx of Anemia

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fatigue, dyspnea, palpitations, headache, dizziness, decr exercise or work tolerance, decr concentration

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CNS manifestations of anemia

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Moderate- Headache
Severe- syncope, fainting, seizures

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Skin mucosa maifestations of Anemia

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Moderate- Pallor
Severe- marked Pallor

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Heart manifestations of Anemia

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Moderate- Tachycardia, murmur
Severe- Tach, Murmur, failure

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Clinical signs of Hemolysis or Dyserythropoiesis

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jaundice, splenomegaly, maxillary hyperplasia

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Clues from Hx leading to anemia

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-Excessive milk intake, pagophagia, PICA (all Fe Def)
-neonatal jaundice, Splenectomy, cholecystectomy all hemolysis
- abdominal surgery (illeal resection) Vit B12 def

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Clues from PE leading to Anemia

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Jaundice, Splenomegaly, Maxillary Hyperplasia, frontal bossing -all hemolysis

Koilonychia (nail spooning)- Fe Def

Glossitis, decr proprioception and vib sense- B12 def

Hepatosplenomegaly- infiltrative disorders

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Labs used to Dx and evaluate anemia

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CBC, retic, periph smear

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CBC

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Hgb, RBC, MCV

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Microcytosis

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reduction in the size of red cells. measure as a decr in MCV.
Assoc with defects in Hgb synthesis

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causes of Microcytic Anemias

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Decresed Fe availabiility
Disordered Heme synth
Disordered Globin synth

Disorders of iron metabolism: congenital, acquired, rare

Sideroblastic anemias- iron gets stuck in mitochondria-congenital, acquired

Thalassemias

Hemoglobinopathies

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Iron metabolism

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iron in proximal duodenum --> transported into intestinal cell then into blood stream --> transferrin takes iron into bone marrow --> enters immature rbc

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CBC in iron deficiency

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low Hb, Low Hct, low MCV, Low MCHC, High RDW, low RBC

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Lab tests in iron deficiency

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Iron profile: serum iron, TIBC/transferrin (diagnostic) hi in deficiency. % iron saturation of TIBC (decr in def). Serum ferritin (measure of storage of iron in tissue)

Soluble transferrin Receptor

Free erythrocyte protoporphyrin

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Iron deficiency in adults usu comes from

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BLOOD LOSS! usu from large bowel esp in males and post meopausal females. younger adults- upper GI

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Other causes for Iron deficiency in adults

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Increased rquirement: pregnancy, lactation

Decreased absorption: decr gastric acidity, small bowel disease

Excessive menstrual blood loss

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Infants at risk for iron deficiency

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low birthweight, perinatal bleeding, low Hgb at birth, hi growth rate, early cows milk and solid food intake, freq tea intake, PICA

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Sideroblastic anemia - congenital

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X linked or autosomal recessive. Mitochondrial disease

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Sideroblastic anemia- acquired

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drugs (isoniazid), toxins (lead), neoplastic (MDS)

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Thalassemias

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disorders of globin chain imbalance. Any of the globin chains can be affected. Globin Chains are Structurally normal

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Alpha Thalassemias

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decreased synthesis of alpha globin chain "new" hemoglobins.

Barts- gamma chain tetramer
H- beta chain tetramer

Varied clinical features- determined by number of alpha genes deleted.

** very young children will have excess gamma

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Alpha Thalasseia Genetics

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One gene deleted on chromosome 16- Silent Carrier

Two genes deleted- thalassemia mino

three genes deleted- Hgb H disease

Four genes deleted- Hydrops fetalis

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Inheritance of alpha thalassemia

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you get two alpha globin genes from each parent

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Alpha Thalassemia Trait

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2 alpha genes deleted
-microcytic, hypochromic red cells
-"target" cells present
- decr MCV
-normal RDW
-Mild anemia

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Hemoglobon "H" Disease

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3 alpha genes deleted
- moderately sever hemolysis
-elevated retics
-red cell inclusions on supravital staining

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Hydrops Fetalis

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4 genes deleted

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Beta Thalassemia

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Decreased synthesis of beta chains- usu due to mutations not deletions

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Beta Thalassemia Minor

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heterozygot - Beta thalassemia trait

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Beta thalassemia Major

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homozygote or compound heterozygote Cooley's Anemia

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Inheritance of Beta Thalssemia

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each parent gives one trait from chromosome 11

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Beta Thalassemia Minor

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Mild microcytic, hypochromic anemia
- elevated Hb A2
-autosomal dominant
-low MCV
-Normal RDW

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Beta Thalassemia major

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very low Hgb
-transfusion dependant
-autosomal recessive
-bone marrow transplant can be curative
-maxillary hyperplasia, hepatoslenomegaly, hair on end (xray), marrow hyperplasia

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Hemoglobin E

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B-chain mutation (B26lys...glu)
-prevalent in SE Asia
-microcytic hypochromis
- interacts with B- thalassemia

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Hgb E/ B thalassemia

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cmpd heterozygotes for Hgb E and B thal
-moderately severe anemia
-splenomegaly
-growth delay
-transfusion req't

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Tired plumber
lo Hgb
lo Fe
high TIBC
lo %saturation
lo ferritin

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early iron deficiency anemia
eval for blood loss

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pale, pagophagia, tachy
lo hgb
mch lo
mcv lo
rdw hi
serum iron-lo
TIBC hi
%sat lo
ferritin- very low

Back 37

microcytic hypochromis anemia