HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family

Abstrakt

We report four individuals (two siblings, a half-brother and a cousin [Twin I of the dizygous twin brothers]) from an extended family of Romanian Romani origin affected with hexokinase deficient haemolytic anaemia. All had neurodevelopmental delay, microcephaly, recurrent apnoeic episodes, epilepsy, and generalised white matter atrophy on MRI brain.

A homozygous missense variant in HK1 (NM_033496.2:c.278G>A, (p.(Arg93Gln)) was identified by next generation sequencing (confirmed by Sanger sequencing) in three out of four children, the fourth remains untested.