Hemolytic Anaemia
Hemolytic Anaemia
HAEMOLYTIC ANEMIA➔ Definition: anaemia that arised due to increase destruction of erythrocyte
➔ Classification:
★ INTRACORPUSCULAR HEMOLYSIS● Membrane Abnormalities (Spherocytosis)● Haemoglobin defects (Thalassemia, Sickle cell Anaemia)● Enzyme defects (G6PD Deficiency)
★EXTRACORPUSCULAR HEMOLYSIS● Nonimmune (Drug related, Mechanical)● Immune (Autoimmune, Alloimmune)
HEREDITARY SPHEROCYTOSIS
наследственный сфероцитоз или болезнь Минковского-Шоффара
EPIDEMIOLOGY
➔ 1:5000 in Caucasians➔ Its inheritance, often autosomal dominant (⅔),
and autosomal recessive (⅓)➔ Maybe no FHx, caused by new mutation➔ Northen europe are most common but also in SE
Asia
ETIOLOGY AND PATHOGENESIS➢ Mutation in the genes for protein of RBC membrane (spectrin,
ankyrin or band 3)
➢ Producing spheroidal shaped and osmotically fragile RBCs that are trapped and destroyed in the spleen, resulting in shortened RBC lifespan.
Clinical Features Anaemia (Hb=9-11g/dl, transiently fall during infection)
Intermittent jaundice (severe: in 1st few day of life/childhood) Splenomegaly Haemolytic crises (hemolysis) Pigmented gallstones in adolescents and young adults due to increased
bilirubin excretion Aplastic crises (reticulocytopenia) with Parvovirus B19 infections (2-4 weeks) Megaloblastic crises
Diagnosis
COMPLICATION❖ Gout, Leg ulcers❖ Chronic erythematous dermatitis of legs❖ Extramedullary hematopoesis❖ Hematologic malignancies : multiple myeloma, leukemia,
hepatoma❖ Heart disease: CCF, cardiomyopathy
TREATMENT●If Hb > 10 gm/dl and retics < 10%- no Rx●If severe anemia, poor growth, aplastic crises and age <2yrs-
transfusion●If Hb < 10 gm/dl and retics > 10 % or massive spleen- splenectomy ●Folic acid- 1 mg/day (mild)
** Splenotomy
➢ To be delayed as long as possible
➢ Mild cases: no need, unless gallstone developed
➢ Avoided for patients < 5 years age because of the increased risk of postsplenectomy sepsis
➢ Give pneumococcal, haemophilus and meningococcal vaccination 4-6 weeks prior to splenectomy and prophylactic oral penicillin to be given post-splenectomy.
THALASSEMIA Талассемии
INTRODUCTION★Inherited blood disorder presenting with anaemia at 4 - 6 months of
age
★Common presenting symptoms are pallor, lethargy, failure to thrive and hepatosplenomegaly
★Most often in Indian subcontinent, Mediterranean, and middle East
★In Malaysia, the β-thalassaemia carrier rate is estimated at 3-5%, most of whom are unaware of their carrier / thalassaemia minor status.
★Must perform prenatal dx: DNA analysis of chorionic villius sample
Β-Thalassemia❏ Types:
a) Beta-Thalassemia major (βo/βo genotype): most severe form, HbA (α2β2) cannot be produced because of the abnormal β globin gene.
b) Beta- Thalssemia intermedia(β+/βo or β+/β+ genotype): milder, varies severity; beta globulin allow small HbA or large amount of HbF to be produced
c) Beta Thalassemia minor(β/βo or β/β+ genotype): Only one of the two β globin alleles contains a mutation, so β chain production is not terribly compromised and patients may be relatively asymptomatic.
Sxa) Severe anemia, transfusion dependent, 4-6months of life, a/w jaundice
b) Growth failure
c) Extramedullary hemopoiesis (Hepatosplenomegaly, bone marrow expansion)
❏ Management:
a) Lifelong monthly bld transfusion
b) Iron chelation for repeated bld transfusion (desferrioxamine)
c) Bone marrow transplantation
Sickle Cell AnaemiaСерповидноклеточная анемия
Pathogenesis● HbS form due to mutation in beta globulin gene
● Changes in AA encoded frm glutamine to valine
Clinical manifestation✓ Anaemia: Hb=6-10g/dl with jaundice frm chronic hemolysis
✓ Infection (due to hyposplenism)
✓ Painful crises: vaso-occlusive crises lead to pain ( dactylitis)
✓ Hemolytic, aplastic,sequestration crises
✓ Priapism: might cause copora carvenosa fibrosis and subsequent erectile incompetence
✓ Splenomegaly
✓ Long term problems: gallstone, renal failure, cardiac elargement, delayed puberty and short stature, adenotonsillar hypertrophy, leg ulcer, stroke and cognitive problems
Diagnosis ●Electrophoresis: polymerization of HbS
●CBC: decrease Hb, ESR; leucocytosis, thrombocytosis, reticulocytosis
●Blood smear: sickle shape RBC
●Increase in serum bilirubin
Treatment● Acute crises
i) Oral/ IV analgesia- pain crises
ii) Antibiotics- Infection
iii)Exchange transfusion- indicated for acute chest syndrome, stroke and priapism
● Chronic problem
i) Hydroxyurea: recurrent admission with pain crises and acute chest syndrome
ii) Bone marrow transplant (frm HLA identical sibling)
Glucose-6-Phosphate Dehydrogenase (G6PD)
Defeciencyнедостаточность глюкозо-6-фосфат
дегидрогеназы
Introduction❖G6PD- essential for pentose oxidative pathway and prevent
oxidative damage to RBC
❖Lacking cause oxidant induced hemolysis
❖X linked recessive, predominantly in males
❖Heterozygous female: normal; affected only when female are homozygous
Clinical Manifestation:➢ Neonatal jaundice: onset on 1st
3 day of life
➢ Acute hemolysis- precipitated by:
↪ Infection (pnemonia, hepatitis, typhoid fever
↪ Certain drugs ( antimalaria, antibiotics,analgesics-aspirin and chemicals)
↪ Fava beans
↪ Napthalene in mothball
Diagnosis:
• Enzyme increase during hemolytic crises
• Reticulocytosis
• Increase conjugated and unconjugated bilirubin,LDH, alkaline phosphate
Treatment:
➤ Parents given list of drugs, food and chemical to avoid
➤ Rerely use transfusion
Autoimmune hemolytic anemia
АУТОИММУННЫЕ ГЕМОЛИТИЧЕСКИЕ АНЕМИИ
Diagnosis and TreatmentDiagnosis:
★ Biochemical analysis: increase LDH, unconjugated bilirubin; decreased serum iron
★ Urine: hemosiderinuria
★ Direct Coomb Test -ve
Treatment:
❖ Treating underlying dz
❖ Plasmapheresis
❖ IV Ig
❖ Apoptotic inhibitor