Severe fetal anemia caused by anti-Jra : Burst forming unit-erythroid colony formation inhibition assay suggesting possible erythroid suppression mechanism.
Transfusion
; 63(4): 877-882, 2023 04.
Article
en En
| MEDLINE
| ID: mdl-36727643
ABSTRACT
BACKGROUND:
The Jr blood group system includes a single, high-prevalence antigen, Jra , encoded by the ABCG2 gene. The impact of anti-Jra in pregnancy is variable, ranging from no clinical effect to severe anemia including some fetal deaths. Case reports have postulated that anti-Jra mediated fetal anemia is poorly hemolytic, suggesting other mechanisms of anemia may be involved. STUDY DESIGN ANDMETHODS:
We describe the case of severe anti-Jra mediated fetal anemia. At Canadian Blood Services laboratories, maternal anti-Jra was tested for phagocytic activity via a monocyte monolayer assay (MMA) and erythroid suppression via inhibition of burst forming unit-erythroid (BFU-E) colony formation assays. The New York Blood Center sequenced exons 4 and 7 of the ABCG2 gene. RESULTS ANDDISCUSSION:
Sequencing of exons 4 and 7 of the ABCG2 gene revealed maternal compound heterozygosity for two nonsense mutations at exon 7 (c.706 C > T and c.784G > T). Fetal sequencing revealed the c.706C > T polymorphism. The MMA showed a borderline phagocytic index (around the cutoff of five for both donor segments tested [5 ± 1 and 7 ± 3]). The BFU-E colony formation inhibition assay suggested a dose-dependent inhibition of BFU-E colony formation with inhibition percentages of 4%, 11%, and 43% at maternal serum concentrations of 2%, 5%, and 10%, respectively. Our findings support the hypothesis that anti-Jra may impair erythropoiesis leading to clinically significant fetal/neonatal anemia. A referral to maternal fetal medicine is recommended if anti-Jra is detected in pregnancy, regardless of the titer.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Antígenos de Grupos Sanguíneos
/
Enfermedades Fetales
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Anemia
Tipo de estudio:
Risk_factors_studies
Límite:
Female
/
Humans
/
Newborn
/
Pregnancy
País/Región como asunto:
America do norte
Idioma:
En
Revista:
Transfusion
Año:
2023
Tipo del documento:
Article
País de afiliación:
Canadá