Rheumatology & Haematology — Flashcards

Flashcard 131: What is the supportive management required to improve long-term survival in beta thalassaemia major?\n_____

Answer: Iron chelation therapy (e.g., deferoxamine)

Flashcard 132: Beta thalassaemia _____ is due to β0/β0 and presents with severe anaemia that is transfusion-dependent

Answer: major (Cooley's anaemia)

Flashcard 133: Alpha thalassaemia major (haemoglobin Bart's disease) often results in _____ in utero

Answer: hydrops fetalis

Flashcard 134: What is the management for asymptomatic thalassaemias? _____

Answer: No specific management

Flashcard 135: Haemophilias predominantly affect _____.

Answer: men

Extra: Hemophilia A and B are **X-linked recessive** disorders. Males (XY) have only one X chromosome, so a single defective gene causes the disease. Females (XX) are typically asymptomatic carriers unless they have lyonization (skewed X-inactivation) or Turner syndrome.

Flashcard 136: What is the most accurate investigation for haemophilia? _____

Answer: Factor VIII & IX assay

Flashcard 137: Petechial bleeding is a common sign of _____ disorders

Answer: platelet

Flashcard 138: Thalassaemia is associated with a(n) _____ red cell distribution width (RDW)

Answer: normal

Flashcard 139: Public Health England recommend all _____ women are screened for thalassaemia

Answer: pregnant

Flashcard 140: Essential thrombocythaemia typically occurs at age _____-60 years old

Answer: 50