A de novo ANK1 mutation associated to hereditary spherocytosis: a case report.

ABSTRACT:

Background

Hereditary spherocytosis (HS) is a type of hemolytic anemia caused by abnormal red cell membrane skeletal proteins with few unique clinical manifestations in the neonate and infant. An ANK1 gene mutation is the most common cause of HS.

Case presentation

The patient was a 11-month-old boy who suffered from anemia and needed a regular transfusion therapy at an interval of 2-3 months. Hematological investigations showed moderate anemia (Hb80 g/L). Red cells displayed microcytosis (MCV76.4 fl, MCH25.6 pg, MCHC335 g/L). The reticulocytes were elevated (4.8%) and the spherocytes were increased (10%). Direct antiglobulin test was negative. Biochemical test indicated a slight elevation of bilirubin, mainly indirect reacting (TBIL32.5 μmol/L, IBIL24 μmol/L). The neonatal H

SUBMITTER: Huang TL 

PROVIDER: S-EPMC6379977 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature