Hydrops fetalis and failure of hematopoietic stem cell transplantation – A long route to the diagnosis of SPTA1-associated hereditary spherocytosis

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00098892%3A_____%2F22%3A10157819" target="_blank" >RIV/00098892:_____/22:10157819 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/22:10443365 RIV/00064203:_____/22:10443365

Výsledek na webu

<a href="https://www.sciencedirect.com/science/article/pii/S1079979622000213?via%3Dihub" target="_blank" >https://www.sciencedirect.com/science/article/pii/S1079979622000213?via%3Dihub</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.bcmd.2022.102664" target="_blank" >10.1016/j.bcmd.2022.102664</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Hydrops fetalis and failure of hematopoietic stem cell transplantation – A long route to the diagnosis of SPTA1-associated hereditary spherocytosis

Popis výsledku v původním jazyce

We report the case of a female newborn with severe congenital anemia presenting as hydrops fetalis, followed by a clinical picture of transfusion-dependent hypoproliferative anemia. The most common causes of hydrops fetalis due to a severe non-immune hemolytic anemia are homozygous alpha-thalassemia, pyruvate kinase deficiency and other non-spherocytic anemias, autosomal recessive (AR) hereditary spherocytosis (HS), hereditary xerocytosis and congenital dyserythropoietic anemia (CDA). Congenital hemolytic anemia with reticulocytopenia and dysplasia of erythroid precursors is rare and CDA should be included in the differential diagnosis. The diagnostic process in our patient was complicated by inconclusive laboratory testing due to her transfusion dependency and her final diagnosis was only established after the introduction of whole exome sequencing (WES).

Název v anglickém jazyce

Hydrops fetalis and failure of hematopoietic stem cell transplantation – A long route to the diagnosis of SPTA1-associated hereditary spherocytosis

Popis výsledku anglicky

We report the case of a female newborn with severe congenital anemia presenting as hydrops fetalis, followed by a clinical picture of transfusion-dependent hypoproliferative anemia. The most common causes of hydrops fetalis due to a severe non-immune hemolytic anemia are homozygous alpha-thalassemia, pyruvate kinase deficiency and other non-spherocytic anemias, autosomal recessive (AR) hereditary spherocytosis (HS), hereditary xerocytosis and congenital dyserythropoietic anemia (CDA). Congenital hemolytic anemia with reticulocytopenia and dysplasia of erythroid precursors is rare and CDA should be included in the differential diagnosis. The diagnostic process in our patient was complicated by inconclusive laboratory testing due to her transfusion dependency and her final diagnosis was only established after the introduction of whole exome sequencing (WES).

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30205 - Hematology

Projekt

<a href="/cs/project/NV18-07-00430" target="_blank" >NV18-07-00430: Biologie a imunopatologie selhání kostní dřeně a kombinované autoimunitní cytopenie (Evansova syndromu) u dětí</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2022

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Blood Cells, Molecules and Diseases

ISSN

1079-9796

e-ISSN

1096-0961

Svazek periodika

95

Číslo periodika v rámci svazku

July

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

4

Strana od-do

102664

Kód UT WoS článku

000796477800003

EID výsledku v databázi Scopus

2-s2.0-85129240031