# Congenital blood disorder (including congenital anaemia, e.g. thalassaemia) - Category: chronic - Review status: reviewed (every claim checked against a document named on this page) - Sources: ICPC-3 (WONCA International Classification of Primary Care, 3rd edition) class BD55 - condition scope only, no dose · No dose - referral pathway, no medicine given in primary care · Thalassemia - StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK545151/ - Verified date: 2026-08 ## Verified against - No dose - referral pathway, no medicine given in primary care ## Treatment metadata - No drug therapy in primary care (Referral & Advice) ## Complete treatment card ```text CONGENITAL BLOOD DISORDER (INCLUDING CONGENITAL ANAEMIA, E.G. THALASSAEMIA) Sources: ICPC-3 (WONCA International Classification of Primary Care, 3rd edition) class BD55 - condition scope only, no dose · No dose - referral pathway, no medicine given in primary care · Thalassemia - StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK545151/ Review status: REVIEWED against the source listed above (2026-08) IS IT THIS? - reference only, to read alongside your own examination SYMPTOMS - what the patient reports (4) - How it looks varies widely with the type and the severity - Tiredness from the anaemia is usually the first thing reported [anaemia · fatigue] - Colicky pain of gallstones, formed from long-standing high bilirubin [abdominal pain · gallstones] - In a child, anaemia holds back growth and delays puberty, so track growth against age [anaemia] SIGNS - what you find (10) - Pale from the anaemia and yellow from the breakdown of red cells [anaemia · pallor] - Ulcers on the limbs - Bronze skin where repeated transfusions have loaded the body with iron - Marrow spilling outside the bones deforms the face and skeleton, the chipmunk look - Iron in the heart muscle upsets the rhythm; the chronic anaemia can bring frank heart failure [anaemia] - Enlarged liver and spleen from iron loading and from blood formation in those organs [hepatomegaly] - The spleen may infarct or consume itself under the constant haemolysis [haemolysis · ischaemia] - Liver failure or cirrhosis, from iron or from hepatitis caught through transfusion [cirrhosis] - Iron in the pancreas causes diabetes; in the thyroid and parathyroid, underactivity of both - Iron in joints gives long-standing arthropathy; in the brain, early Parkinson disease and psychiatric trouble TESTS (12) - Blood count comes first: low haemoglobin with low MCV, once iron deficiency is excluded - MCV divided by red cell count below 13 favours thalassaemia; above 13 favours iron deficiency - Film: small pale cells, varying in size and shape, with more reticulocytes - Film also shows target cells and Heinz bodies - Iron studies, including ferritin and transferrin saturation, to exclude iron deficiency anaemia - Red cell porphyrin is normal in beta thalassaemia but raised in iron deficiency and lead poisoning - Normal adult pattern: HbA 95 to 98 in 100, HbA2 2 to 3, HbF under 2 - Beta thalassaemia major: raised HbF and HbA2, with HbA absent or nearly so - Beta thalassaemia minor: HbA2 slightly up, HbA slightly down - HbH appears in some alpha thalassaemia; HbS belongs to sickle cell disease - Gene testing confirms the globin mutation and settles carrier status, but is not routine - Before birth in high-risk families: chorionic villus sampling at 8 to 10 weeks, or amniocentesis at 14 to 20 IF NOT THIS - what else fits (4) - Iron deficiency anaemia, sorted out by iron studies and the red cell index - Anaemia of chronic disease or of kidney failure, with raised CRP and ESR pointing that way - Sideroblastic anaemia, excluded by iron studies and the blood film - Lead poisoning, excluded by measuring serum protoporphyrin Source StatPearls "Thalassemia" - disease-level clinical article Status traced to the source above 1. NO DRUG THERAPY IN PRIMARY CARE (REFERRAL & ADVICE) [1st line] Adult Covers inherited conditions such as thalassaemia and G6PD deficiency, both common in Egypt; the GP recognises the pattern (family history, microcytic anaemia not responding to iron), gives supportive advice (folic acid, drugs to avoid in G6PD deficiency, genetic counselling) and refers to haematology for definitive diagnosis and management. - Refer, with advice Peds Children follow the same pathway: recognise and refer. No primary-care medicine is implied. Source No dose - referral pathway, no medicine given in primary care Why Covers inherited conditions such as thalassaemia and G6PD deficiency, both common in Egypt; the GP recognises the pattern (family history, microcytic anaemia not responding to iron), gives supportive advice (folic acid, drugs to avoid in G6PD deficiency, genetic counselling) and refers to haematology for definitive diagnosis and management. Caution No medicine is prescribed for this in primary care - this entry is for recognition and referral. Anything given is decided by the service it is referred to. RED FLAG - Failure to thrive or severe anaemia in infancy (thalassaemia major), jaundice or dark urine after specific drugs or foods (G6PD deficiency), a family history of consanguinity with anaemia, or a need for regular transfusions: refer for haematology assessment. Prices are indicative (dataset snapshot 2026-06); verify with the pharmacy. ``` --- Dawaa Reference is a reference for prescribers, not a medical device, and does not replace clinical judgement. [Privacy policy](/privacy)