Peripheral Blood Smear of Bart’s Hydrops Fetalis

A multiplex quantitative fluorescent PCR test for prenatal diagnosis of Hb Barts hydrops fetalis.

tion, which removes both the 1 and 2 genes from 1 allele, leaving only 2 functional genes. This finding explains the comparatively high expression level (40%) of the variant chain. In an alignment of 449 globin sequences from different species, 91 is absolutely conserved as leucine, and this extraordinary level of conservation suggests an important functional role. X-ray structural analyses sho...

Optimizing chronic transfusion therapy for survivors of hemoglobin Barts hydrops fetalis.

Hemoglobin Barts hydrops fetalis (homozygous a-thalassemia) results from deletion of all 4 a-globin genes. It was previously considered a universally fatal condition; however,with recent advances in prenatal care and the availability of intrauterine blood transfusions, an increasing number of patients are now surviving into adulthood. Similar to patients with transfusion-dependent thalassemia d...

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...

[Non-immunologic hydrops fetalis].

Non-immune hydrops fetalis