Tiêu đề Bleeding disorders .docx ✅

Iman, Nisa, Lissa, Zaty (9/2/2021) Forti Bleeding Disorders Anemia Causes of anemia Neonate ● Immune hemolytic (AIHA, ABO, Rh incompatibility) ● Infection (parvovirus b19 → red cell aplasia) ● Hereditary (HS, SC, 3-6 months ● Hemolytic anemia (Thal, HS, SC) Older child ● Acquired (IDA, folate deficiency) ● Malignancy (leukemia) Anemic sx & signs ● Pallor, lethargy, SOB on exertion, weakness, palpitation ● Neonates: taking long time to feed (easily fatigue) ● Tachycardia, tachypnoea, cardiomegaly, ESM, koilonychia, glossitis (IDA) Hemolytic sx ● Jaundice (scleral icterus) ● Dark-coloured urine CAUSES: 1. Reduced in production (ineffective erythropoiesis): red cell aplasia, IDA, folate deficiency, vit B12 def, CKD 2. Increased in destruction (hemolytic): thalassemia, SC, HS, G6PD, AIHA 3. Blood loss: GI (diverticulum), von willebrand disease Thalassemia - Autosomal recessive - Sx anemia + hepatosplenomegaly - d/t increase RBC destruction (hemolytic anaemia) - might not always has fam hx cuz parents can be a carrier only (thal. trait) - B-major (as early as 6 months) IDA - d/t decrease RBC production (ineffective erythropoiesis) - Hx of GI blood loss / picky eater / delayed weaning Sickle cell disease - Autosomal recessive BLEEDING AND COAGULATION DISORDERS Leukemia - early sx might not be apparent - LOW, LOA, frequent fever, bleeding tendencies (epistaxis), bone/joint pain ITP - Autoimmune against platelet - Hx of viral infection 1-2 weeks prior
Iman, Nisa, Lissa, Zaty (9/2/2021) Forti Haemophilia - Hemophilia A (F8), hemophilia B (F9) = x-linked recessive - Hemophilia C (F11) = autosomal recessive - hemarthrosis , muscle hematoma VWF - Autosomal dominant - Hemarthrosis, hematoma HSP - Autoimmune vasculitis (normal platelet and coag profile) G6PD -Present w short hx anaemia sx (acute haemolytic crisis) - tea colored urine -X-linked recessive -fam hx - consanguineous marriage -gender - boy (ask other siblings w same hx) -ask the see the baby book → usually will be recorded -triggering factor of ( antibiotic, fava beans) GSH- take blood, find blood type, save sample 48 hr GXM- testing blood with packed cells to use (use this for readily available esp in sx anemia Long case thalessemia Dr Mazidah THALASSEMIA Definition: Hemoglobinopathies are genetic disorders which results from either abnormal Hb chain or defective synthesis of normal Hb - Autosomal recessive - MOST COMMON : Beta thalassemia carrier + HbE carrier → HbE/ Beta thalassemia or thalassemia Intermedia Alpha Thalassaemia (4 genes) Beta Thalassaemia (Quantity problem) 2 genes Pathophysio : Alpha (Deletion at Chromosome 16) / Beta (Point mutation at chromosome 11) → ↓ rate of globin chain → ↓ mature Hb → ↑ extramedullary hematopoiesis → ↑ Hb destruction by spleen → cx (jaundice, bone deformities etc) Type of Hb →  HbA2- alpha2 delta2 (2% in adult Hb, ↑ in B-thalassemia) HbF-alpha2 gamma2 (more in fetal until first few months then transition to HbA, ↑ in B-thalassemia) Hb Barts - gamma4 (incompatible with life→ hydrops fetalis)
Iman, Nisa, Lissa, Zaty (9/2/2021) Forti ● HbA -alpha2 beta2 (97% in adults) ● HbA1c- glycosylated Hb alpha2 beta 2(<5%) ● HbH a-thalassemia -beta4 no alpha Pathophysio Iron Overload Chronic transfusions + humans cannot actively remove excess iron + increased intestinal iron absorption (main transport protein of iron to bind and detoxify iron) propagators of oxygen-related damage) Hx Sx Age: 4-6 month y/o initial presentation of anemia (pallor, lethargy, FTT, hepatosplenomegaly) 1.Pallor ● Onset: Acute/insidious for 1st ep ● Progressive ASSOCIATED SYMPTOMS 2. Anaemic symptoms - Lethargy/Inactive - Palpitations (older kids) - SOB (older kids) - Syncope 3. FTT/Poor weight gain 4. Recurrent infection - Fever 5. Reduced effort tolerance (older children) 6. Jaundice, normal stool and urine (baby)- ask changes in urine/stool 7.Bruising/Bleeding tendencies Ask type of thalassemia (if known thalassemia) → Minor/Major B- Thalassemia Major (4 - 6 months or < 2 years of age) -Anemia (Eg. Pallor and Lethargy) -FTT -Hepatosplenomegaly, - Jaundice -Transfusion dependent PE - Check growth parameter (weight & height), Small for age (Add : I would like to confirm by plotting on a proper growth chart ) - Vital signs: HR,BP,PR - Check nutritional status - Skin: any pallor/ jaundice/ bruises/ petechiae/ rashes General -Pallor (anemia) +/-Jaundice (dt hypersplenism, ↑RBC destructions) -FTT/retarded growth -Delayed puberty -Scar for desferrioxamine infusion (pigmented, round at abdomen, thigh , upper arms) -Dark skin (Pigmentation from iron overload) Face Thalassemic facies -Frontal bossing, -Maxillary hyperplasia (chipmunk) -Prominent malar eminence -Gum hypertrophy -Malocclusion teeth TRO ddx: mouth ulcers GIT -Hepatosplenomegaly (comes first) -Gallstones (↑bile pigments) Heart failure→ impaired left systolic function with ventricular dilatation Before transfusion era: prolonged tissue hypoxia from chronic anaemia + presence of abnormal hemoglobin types with increased oxygen affinity (hemoglobin F) + the low levels of 2,3- bisphosphoglycerate of the transfused blood → high cardiac output state→ heart failure ineffective erythropoiesis + peripheral haemolysis + increased intestinal iron absorption + repetitive blood transfusion→ iron toxicity & production free O2 radicals from free iron→ free iron enters cardiomyocytes causing peroxidative damage to cells→ cardiomyocytes apoptosis → cardiac dysfunction
Iman, Nisa, Lissa, Zaty (9/2/2021) Forti B- Thalassemia Intermedia (later age) -Milder anemia -Extensive Thalassemia Facies -Hepatomegaly When 1st diagnosed (major / intermedia) if transfuse ask why Transfusion dependent? - Pre & post-Hb - Interval : weekly? - Amount transfuse ( 1 pint ~ 500 ml) - Urticaria (antibodies formation) - Infection (hep B, C, HIV, Malaria) - Iron overload compx - Heart failure - HypoTH, HypoPTH, pituitary failure, hypogonadism - DM - Liver cirrhosis On iron chelation? - Interval : every 10 transfusion/serum ferritin - Type: PO / SC - Eye : reduced vision - Ear : deafness (SNHL) (Request to see ‘Thalassemia book’) - Age of first transfusion - Iron Chelating therapy - Transfusion per year - Surgery and Drugs (if any) - Hospitalisation and Complications developed Social Hx : Family Support, School Attendance, Koko, Result, Financial Risk Factors -Evidence of lipodystrophy -Scars around umbilical area for iron chelation therapy infusion (Multiple, hyperpigmented, circular shaped -Stigmata for liver failure (Iron overload) CVS (HF sx) 1. Displaced apex beat 2. Systolic murmur 3. Signs of CCF - Raised JVP - Pedal edema - Check lymph nodes (tro ddx) - Urine & stool inspection (tro ddx) - Tanner’s staging (Pubertal delay – Breast and Genitalia) if teenagers age - Thyroid examination (Hyperthyroidism) PE tro DDX: IDA ● Glossitis ● Angular stomatitis ● Koilonychia Leukemia ● Lymphadenopathy ● Bruises ● Bone tenderness SLE ● Oral ulcer ● Malar rash ● Alopecia ● Arthritis *Heart complication ft thalassemia - usually in inadequate iron chelation therapy