KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome

KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome.

We describe a case of severe neonatal anemia with kernicterus caused by compound heterozygosity for null mutations in KLF1, each inherited from asymptomatic parents. One of the mutations is novel. This is the first described case of a KLF1-null human. The phenotype of severe nonspherocytic hemolytic anemia, jaundice, hepatosplenomegaly, and marked erythroblastosis is more severe than that prese...

Retrospective analysis of 17 liveborn neonates with hydrops fetalis.

BACKGROUND Hydrops fetalis (HF) is a condition with a high mortality rate. The cause may be due to a variety of underlying diseases. In the majority of cases, death occurs antepartum and intrapartum. For those that are born alive, it is difficult to survive. The purpose of this study was to analyze the clinical manifestations, etiologies and outcomes of liveborn babies with hydrops fetalis. M...

[Non-immunologic hydrops fetalis].

Non-immune hydrops fetalis

Aetiology of hydrops fetalis.

These 2 cases provide additional examples of HUS occurring in sibs after a long interval. The family resided in New York City, which is not considered as an endemic area for HUS, and the clinical course of the disease in both infants was almost identical, culminating in early death. The aetiology of HUS may indeed be multiple, and the genetic basis for a significant proportion of cases does not...