You are giving a teaching session to a group of junior colleagues. The title of the session is "Bleeding Disorders in the ED". You are discussing the inheritance of haemophilia A. Assuming one parent is a non-carrier, which of the following statements is INCORRECT?
Haemophilia is a bleeding disorder, usually inherited with an X-linked recessive inheritance pattern, which results from the deficiency of a coagulation factor. Haemophilia A results from the deficiency of clotting factor VIII. Haemophilia B results from the deficiency of clotting factor IX. Acquired haemophilia is a separate non-inherited condition. It is much rarer than congenital haemophilia and has an autoimmune-related aetiology with no genetic inheritance pattern.
Congenital haemophilia has an X-linked recessive pattern of inheritance. Therefore, boys/men are exclusively affected, although many female carriers have clotting factor levels in the haemophilia range due to lyonization (random inactivation of the normal X chromosome) and may have bleeding symptoms requiring appropriate management. Up to one third of patients with congenital haemophilia have no family history, as the condition may also result from spontaneous germline mutations and/or somatic mosaicism during early embryogenesis
In an X-linked recessive pattern (assuming the other parent is a non-carrier):
X-linked Recessive Inheritance Pattern. (Image by National Institutes of Health derivative work: Drsrisenthil [Public domain])
A characteristic personal and family history, along with physical examination findings, raises suspicion for the diagnosis of congenital haemophilia. This is subsequently confirmed by laboratory findings. The age of presentation and bleeding frequency are influenced by the severity of the condition. Most patients are diagnosed as children. However, some patients may go undiagnosed until adulthood, particularly those with mild or even moderate haemophilia who have had no significant haemostatic challenges in their lives. Haemophilia A and B are clinically indistinguishable.
Typical symptoms of haemophilia:
Typical signs of childhood or adult presentation include:
Comprehensive care for congenital haemophilia involves:
Management of acute bleeding episodes:
Prophylaxis:
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Biochemistry | Normal Value |
---|---|
Sodium | 135 – 145 mmol/l |
Potassium | 3.0 – 4.5 mmol/l |
Urea | 2.5 – 7.5 mmol/l |
Glucose | 3.5 – 5.0 mmol/l |
Creatinine | 35 – 135 μmol/l |
Alanine Aminotransferase (ALT) | 5 – 35 U/l |
Gamma-glutamyl Transferase (GGT) | < 65 U/l |
Alkaline Phosphatase (ALP) | 30 – 135 U/l |
Aspartate Aminotransferase (AST) | < 40 U/l |
Total Protein | 60 – 80 g/l |
Albumin | 35 – 50 g/l |
Globulin | 2.4 – 3.5 g/dl |
Amylase | < 70 U/l |
Total Bilirubin | 3 – 17 μmol/l |
Calcium | 2.1 – 2.5 mmol/l |
Chloride | 95 – 105 mmol/l |
Phosphate | 0.8 – 1.4 mmol/l |
Haematology | Normal Value |
---|---|
Haemoglobin | 11.5 – 16.6 g/dl |
White Blood Cells | 4.0 – 11.0 x 109/l |
Platelets | 150 – 450 x 109/l |
MCV | 80 – 96 fl |
MCHC | 32 – 36 g/dl |
Neutrophils | 2.0 – 7.5 x 109/l |
Lymphocytes | 1.5 – 4.0 x 109/l |
Monocytes | 0.3 – 1.0 x 109/l |
Eosinophils | 0.1 – 0.5 x 109/l |
Basophils | < 0.2 x 109/l |
Reticulocytes | < 2% |
Haematocrit | 0.35 – 0.49 |
Red Cell Distribution Width | 11 – 15% |
Blood Gases | Normal Value |
---|---|
pH | 7.35 – 7.45 |
pO2 | 11 – 14 kPa |
pCO2 | 4.5 – 6.0 kPa |
Base Excess | -2 – +2 mmol/l |
Bicarbonate | 24 – 30 mmol/l |
Lactate | < 2 mmol/l |