Red cell disorders

Gene: XK

Green List (high evidence)

Over 30 causative XK variants (mostly truncating) reported.

McLeod syndrome is a rare X‐linked neuroacanthocytosis affecting the peripheral and central nervous systems, red blood cells (RBCs), and internal organs. Common phenotypic features include absent red blood cell Kx antigen, granuloma formation, cardiovascular abnormalities (Dilated cardiomyopathy & Atrial fibrillation), progressive myopathy, cognitive impairment and associated psychiatric disorders and absent deep-tendon reflexes. Other features include atrophy (50%), Choreatic movement disorder (30%), Seizures (20-40%), Hepatosplenomegaly, and recurrent bacterial/ fungal infections.

Haematological features
-absence of red blood cell Kx antigen
-weak expression of Kell red blood cell antigens
-acanthocytosis
-compensated haemolysis

Created: 7 Sep 2021, 12:45 a.m. | Last Modified: 7 Sep 2021, 12:45 a.m.

Panel Version: 0.55

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
McLeod syndrome with or without chronic granulomatous disease MIM# 300842; absence of red blood cell Kx antigen; weak expression of Kell red blood cell antigens; neuroacanthocytosis (peripheral and central nervous systems); cardiovascular abnormalities; myopathy

Publications

• 8004674
• 30128557
• 30800707