Rheumatology & Haematology — Flashcards

Beta thalassaemia is predominant in individuals from _____ descent

~20% of cases are haemophilia _____ caused by genetic factor IX deficiency

In haemophilia A, mixing normal plasma with the patient's plasma (mixing study) _____ correct the aPTT

Hint: does/doesn't

_____ alleles encode for the x2 α-globin chain 2 alleles encode the x2 β-globin chains

Hint: number

Petechial bleeding is a common sign of _____ disorders

Hint: coagulation/platelet

A young boy presents with heamarthrosis and easy bruising. Coagulation studies reveal ↑ aPTT & normal PT. Mixing studies are corrected. You suspect haemophilia. What other bleeding disorder must be ruled out? _____

Patients with thalassaemias will be offered genetic _____ and family members will be offered screening

What is the general management for thalassaemia major? _____

Hint: 2

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

Haemophilias present with _____ commonly affecting the knees, ankles, & elbows; recurrent ecchymoses; and prolonged haemorrhage particularly after surgery/procedures