BIOLOGY 2F03 Lecture Notes - Lecture 7: Sickle Cell Trait, Sickle-Cell Disease, Thalassemia
19 May 2018
School
Department
Course
Professor
HAEMATOLOGY
Anaemia
• H elow oral rage for hilds age ad geder.
• Clinical features:
o Asymptomatic
o Pallor
o Tiredness
• Management:
o IDA: dietary advice and oral Fe therapy
o Aplastic anaemias: stem cell or BM transplant, immunosuppressive therapy, ABs
Sickle cell disease
• Inherited disorders of Hb structure or its production.
Sickle cell (HbS), homozygous state (SS)
• a.a substitution on codon 6
• Hb molecule becomes deformed in low O2, dehydration, cold → thrombosis and ischaemia
• Management:
o Hydration
o Warmth
o Analgesia
o Blood transfusion
o Blood and BM transplant
o Penicillin
o Pneumococcal vaccine
o Folic acid
Sickle cell trait (AS)
• Usually asymptomatic except under v.v.low O2 tensions
Sickle cell-Hb C (SC) disease
• Nearly normal Hb levels, few painful crisis, but may develop proliferative retinopathy
Thalassaemia
• Syndromes are due to inherited defects of globin chain synthesis
• or absent chain → excess of other type → precipitates in RBC membrane → cell death in BM and
premature removal from the circ by the spleen
-thalassaemia
•
-thalassaemia major
o Severe anaemia and jaundice from 6/12 + FTT + hepatosplenomegaly
o Extramedullary haemopoesis → BM expansion → classical faces (maxillary overgrowth and skull
bossing)
o Rx: reg blood transfusion and chelating therapy. BM transplant is curative.
• -thalassaemia intermedia
o Clinical manifestations are more variable
o Anaemia is moderate
o Blood transfusion sometimes required
• -thalassaemia minor
o Asymptomatic
o onfused with mild IDA and lead to unnecessary Fe therapy
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Document Summary
Anaemia: h(cid:271) (cid:271)elow (cid:374)or(cid:373)al ra(cid:374)ge for (cid:272)hild(cid:859)s age a(cid:374)d ge(cid:374)der. Ida: dietary advice and oral fe therapy: aplastic anaemias: stem cell or bm transplant, immunosuppressive therapy, abs. Inherited disorders of hb structure or its production. Sickle cell trait (as: usually asymptomatic except under v. v. low o2 tensions. Sickle cell-hb c (sc) disease: nearly normal hb levels, few painful crisis, but may develop proliferative retinopathy. Thalassaemia: -thalassaemia major, severe anaemia and jaundice from 6/12 + ftt + hepatosplenomegaly, extramedullary haemopoesis bm expansion classical faces (maxillary overgrowth and skull bossing, rx: reg blood transfusion and chelating therapy. Thalassaemia intermedia: clinical manifestations are more variable, anaemia is moderate, blood transfusion sometimes required. Infections: pallor, abnormal bruising, hepatosplenomegaly, lymphadenopathy, bone pain. Ix: low hb. leukaemic blast cells on film. Treatment: remission induction: correct any aneamia, infection, then 4/52 combo chemo. Atopic (commonest), allergic (type vi hypersensitivity) or caused by irritants or venous stasis.
