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 HS ratio is 4.38, obviously up the threshold. Meanwhile, a de novo
ANK1
mutation (exon 25:c.2693dupC:p.A899Sfs*11) was identified by next-generation sequencing (NGS). Thus, hereditary spherocytosis was finally diagnosed.
Conclusions
Gene detection should be considered in some hemolytic anemia which is difficult to diagnose by routine means. We identified a novel de novo
ANK1
heterozygous frameshift mutation in a Yi nationality patient while neither of his parents carried this mutation.
Electronic supplementary material
The online version of this article (10.1186/s12887-019-1436-4) contains supplementary material, which is available to authorized users.
Background: Brucellosis is a common zoonotic illness in the world. Brucellosis is often characterized by hematologic abnormalities, including mild anemia, leukopenia, thrombocytopenia, or pancytopenia. However, severe refractory thrombocytopenia in brucellosis is very rare and easily misdiagnosed.Case presentation: The patient was a 5-year-old girl with brucellosis who developed severe refractory thrombocytopenia (platelet count: 3×109/L) with complaints of epistaxis, skin petechiae and purpura. Most conventional treatments including glucocorticoids and intravenous immunoglobulin (IVIg) did not elevate her platelets, but eltrombopag worked well and her platelet count recovered rapidly. One week later, the patient's symptoms improved and the platelet count returned to normal.Conclusions:Patients with severe refractory thrombocytopenia, particularly resistant to IVIg and steroid treatment should be considered for second-line drugs such as eltrombopag. Our results also increase the application experience of eltrombopag in Chinese patients with severe refractory thrombocytopenia in brucellosis. To the best of our knowledge, this case is the first reported case of the successful treatment of severe refractory thrombocytopenia in brucellosis with eltrombopag.
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