Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3.

@article{Ribeiro2000SevereHS,
  title={Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3.},
  author={Maria Let{\'i}cia Ribeiro and Nicole Alloisio and Helena Almeida and Clara Gomes and Pascale Texier and Carolina Lemos and G Mimoso and Laurette Morl{\'e} and F Bey-Cabet and Ren{\'e} Charles Rudigoz and J Delaunay and Gabriel Tamagnini},
  journal={Blood},
  year={2000},
  volume={96 4},
  pages={1602-4}
}
Absence of band 3, associated with the mutation Coimbra (V488M) in the homozygous state, caused severe hereditary spherocytosis in a young child. Although prenatal testing was made available to the parents, it was declined. Because the fetus stopped moving near term, an emergency cesarean section was performed and a severely anemic, hydropic female baby was delivered. She was resuscitated and initially kept alive with respiratory assistance and hypertransfusion therapy. Cord blood smears… CONTINUE READING