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Congenital Anemia

Hematology

QuestionAnswer
Autosomal recessive, pain in extremities after exercise, priapism Sickle cell disease
Thalassemia genetics alpha: 2/2 gene deletion (2 genes on chromosome 16); beta: 2/2 point mutation (1 gene on chromosome 11)
Microcytosis out of proportion to the anemia = thalassemia
Thalassemia: alpha globin chains 1 chain = Hgb H dz; all 4 chains deleted: hydrops fetalis (stillbirth); silent carrier = 1 gene deleted (nml MCV). Hgb A (trait)
thalassemia tx Avoid Fe; Hgb H: folate supp, poss splenectomy; beta: transfusions (deferoxamine vs hemosiderosis); allo BMT
Cooley anemia AKA: beta thalassemia major
beta thalassemia major S/S sx onset 4-6 mos old; growth probs, abnormal facies, fx's, osteopenia, bone deforms, HSM, jaundice
Splenectomy: PPx tx includes: Pneumococcal vaccine
SCD complications AVN of femoral head; cholelithiasis, splenomeg, Strep pneumo infxn, stroke, priapism, retinopathies, osteomyelitis
Due to spectrin protein in cytoskeleton Hereditary spherocytosis
Triad: anemia, splenomegaly and jaundice Hereditary spherocytosis
Episodic hemolytic anemia related to oxidative stress (hereditary) G6PD def
2 RBC conditions w/pigment gallstones Hereditary spherocytosis, sickle cell
Degrees of thalassemia disease Hydrops fetalis = all 4 genes deleted (fatal); Hgb-H dz = 3 deleted (MCV=60-70); A-thal trait = 2 genes (MCV=70-80); silent carrier = 1 gene deleted
Thalassemia: Hgb-H dz labs Hgb elect = 10-40% Hgb H; retic is high
Beta thalassemia types Major (Cooley's): both beta globin genes mutated, severe anemia, txn dept; intermedia: txn in stress; minor rarely need txn
Tx for Hgb H disease Splenectomy? & folic acid
Tx for beta thalassemia major Txn, splenectomy, Fe chelation; allogeneic BM trans to cure
Enzyme disorder: adequate Fe but can't get it into Hgb; Fe accumulates in ? Sideroblastic anemia; in RBC mitochondria
Sideroblastic findings High serum Fe, large spleen/liver; mod anemia, low MCV; BM sideroblasts
Tx: Sideroblastic anemia Dept on cause (ETOH, Pb, leukemia, TB Rx); txn/chelation
Anemia due to spectrin protein in cytoskeleton Hereditary spherocytosis
Triad: anemia, splenomegaly and jaundice Hereditary spherocytosis
Pigment type gallstones; chronic leg ulcers Hereditary spherocytosis
Hereditary spherocytosis findings Mod micro anemia; reticulocytosis; high indirect bili; Neg coombs
Hereditary spherocytosis tx Folic acid 1mg po qd; splenectomy for severe
G6PD def prevalence >200M worldwide (usu AA men); X linked recessive; females rare
Stress triggers of G6PD def Infxns; toxins/drugs (sulfa/antimalarial); fava beans
G6PD deficiency findings N/N anemia. No splenomegaly or chronic hemolytic anemia; bite cells/Heinz bodies; Reticulocytosis and increased bili in crisis.
G6PD def tx Splenectomy for severe; (txn rarely); avoid stressors (ASA,sulfa, antimal, fava)
Autosomal recessive disorder in which abnormal Hgb leads to chronic hemolysis Sickle cell disorders
In sickle cell dz, rate of sickling depends on: Conc of Hgb S, dehydration, presence of other Hgb (F), hypoxemia & acidosis
Sickle cell prevalence 8% of AA: Hgb S gene; 1/400 AA have SSA; onset in 1st yr (Hgb F falls); 40-50 yr life exp
S/S = Pallor, jaundice, splenomegaly, leg ulcers, pigment gallstones, priapism Sickle cell
Sickle cell: vascular occlusion leading to infarction Pulmonary (acute chest syndrome); Retinal (blindness?); Renal (to renal failure ); Stroke, even in kids; Splenic infarcts; aseptic necrosis of femoral head
Sickle cell tx Folic acid 1 mg po qd; hydrate, low alt, vax (flu/pneumo/mening)
Sickle Cell A long-term issues Splenectomy: infxn probs; narco abuse; Hydroxurea to increase Hgb F
Total absence of alpha-globin genes = hydrops fetalis (Hgb Bart's: tetramer of 4 gamma globulin chains). Results in stillbirth
SCD pathology Hgb S occurs when valine substitutes for glutamic acid on beta-chain. Decreased Hgb S solubility in hypoxic tissues -> sickling
Most severe form of thalassemia Beta thal major (minor is like iron def anemia). FTT, Mediterranean.
Created by: Abarnard
 

 



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