Paed:Haem Flashcards
General signs and symptoms of anaemia?
Fatigue Dyspnoea on exertion Poor grwoth Pallor Anorexia Rarely -> stomatitis, koilonychia
List some examples of microcytic anaemia?
Iron defiency anaemia, thalassaemias, anaemia of chronic disease
Examples of macrocytic anaemia
Liver disease, b12/folate defieciency, bone marrow failure syndromes
Examples of normocytic anaemia?
Combined iron and b12/folate deficiency, anaemia of chronic disease, recent bleeding
Pathopysiology of sickle cell?
AR sickling disorder in homozygous sickle haemoglobin. Single amino acid substituion (glutamine for valine) occurs in beta-globin chain from mutation on chromosome 11.
Clinical features of sickle cell?
Infancy: High HbF protective until 6months. Most common problems are dactylitis, infections, splenic sequestrations.
Young children: Infection, vaso-occlusive crises in long bones, upper airway obstruction, stroke
Older children: Vaso-occlusive crises, infections (pneumococcus and parvovirus)
Sickle crises/problems?
Vasoocclusive crises Acute chest syndrome Sequestration Stroke Infection Aplastic crises Priapism Avascular necrosis Retinopathy Leg ulcers Ent problems growth and development retardation
Diagnosis of sickle cell?
haematology: increased reticulocytes, sickled cells,
HB electrophoresis is definitive test
Management of sickle cell?
Hydration
Analgesia
Antibiotics
o2
What is Von Willebrands disease?
Autosomal dominant. Results from either quantative or qualitative defiecinecy of VWF. Defective platelet plug formation and defiecient in FVIII:C.
What is the role of VWF?
1: Facilitates adhesion to damaged endothelium
2: Acts as carrier protein to FVIII:C, protecting it from inactivation and clearance
clinical features of VWF disease?
Bruising
Excessive prolonged bleeding post surgery
Mucosal bleeding - epistaxis and menorrhagia
Management of VWF disease?
Avoid Nsaids
TXA if minor bleed
DDVAP
What is haemophilia A?
COngenital bleeding disorder due to the defective production of factor 8.
Presentation of haemophilia A?
easy brusing bleeding into joints painful joints intramuscular bleeds intercranial bleeds haematuria
investigations of haemophilia A?
Inr same. APTT raised. Factor 8 down. VwF and bleeding time same.
CT scan ?intercranial bleed
USS for muscle haematomas
Management of haemophilia A?
Factor 8 concentrate to raise levels
analgesia
What is christmas disease?
Haemophilia B. Same as A tbh pal but just factor 9. Treatment is just factor 9.
What is Thalassaemia?
Inherited defect in synthesis of one or more globin chains. Ineffective erythropoieses, leads to haemolysis. Normal adult haemoglobin is Hb A2B2.
what is beta thalassaemia?
Loss of beta globin gene, so less beta chains and excess alpha chains.
Clinical presentation of major beta thal?
6-12months in homozygous children: FtT, recurrent bacterial infections. Anaemia. Skeletal deformity. hepatosplenomegaly.
What is the hair on end sign?
Seen on skull x-ray in major beta thalassaemia due to increased marrow activity.
Bloods for Beta major thal?
MCV very low (microcytic)
Serum ferritin normal
Over 90% HbF
Film: Large and small irregular hypochromic RBCs
management of beta thallasamia?
Transfusions
Chelation also needed
-Excess iron causes: Liver fibrosis and cirrhosis
Splenectomy
What is alpha thalassaemia?
Deletion of one or both alpha chains on c16.
What is Fanconis anaemia?
Rare AR condition leading to progressive bone marrow failure affecting all three haemopoietic cell precursors.
PResentation of fanconis?
Bruising and purpura
Insidious onset anaemia
Associations: short stature, skin hyperpigmentation, skeletal abnormalities, renal malformations, microcephaly, cryporchism, mental retardation, deafness, abnormal facies.
Investigations in fanconis?
FBC shows pancytopenia
BM shows hypoplastic diserythropoeitc or megaloblastic changes
Treatment of fanconis?
Supportive eg. RBC transfusion, hearing aids
Immunosuppression with corticosteroids and androgens (oxymetholone)
BM transpalnt
What is Immune Thrombocytopenia?
Commonest cause of thrombocytopenia in childhood. Caused by destruction of platelets by antiplatelet IgG antibodies. Decreased platelet count may be accompanied by a compensatory icnrease of megkaryocytes in BM.
Clinical features of ITP?
Usually 2-10yrs old. onset often 1-2weeks post viral infection.
Sx: Petechiae, purpura, +/- superficial brusiing, epistaxis and other mucosal bleeding. Rare: Intercranial bleeding
Investigations for ITP?
Dx of exclusion
NEed BM exam
management of ITp?
most self limiting.
Oral prednisolone, Iv anti-D, IV IG,
platelet transfusions only if life threateing bleeding as only transient increase.
What is chronic ITP?
Platelet count remains low for 6months after diagnosis
What is the tx for significant bleeding?
Retuximab (directed against b lymphocytes)
Thrombopoietic growth factors
splenectomy
What is haemolytic disease of the newborn?
Rhesus haemolytic disease. Haemorrhage usually at birth of fetal blood of differing rhesus group into maternal circulation which leads to maternal antiD igG production.
Presentation of rheus disease?
Antenatal: Fetal anemia, hydrops fetalis
Postnatal: Hydrops fetalis, early jaudice, kernicterus, cutraneous haemopieitc lesions (Blueberry muffin),hepatosplenomegaly
investigations of rhesus?
maternal blood: Rhesus -ve, increaed anti Rh titre
What do u give to Rhd-ve mothers?
anti D IgG
