Hydrops fetalis–associated congenital dyserythropoietic anemia treated with intrauterine transfusions and bone marrow transplantation

Remacha, Ángel F.; Badell, Isabel; Pujol-Moix, Núria; Parra, Johanna; Muñiz‐Díaz, Eduardo; Ginovart, Gemma; Sardà, M. Pilar; Hernández, Ángel Luis Martín de Francisco; Moliner, Ernesto Clar; Torrent, Montserrat

doi:10.1182/blood-2001-12-0351

Cited by 50 publications

(31 citation statements)

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“…As noted previously, BM transplantation is curative for CDAII, 75,83,84 suggesting that the erythroblast defect is intrinsic to the hematopoietic compartment. Multiple congenital dyserythropoietic disorders (reviewed in Iolascon et al 96 ) share common features with CDAII.…”

Section: Pathogenesis Of Cdaiimentioning

confidence: 88%

The COPII pathway and hematologic disease

Khoriaty

Vasievich

Ginsburg

2012

Blood

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IntroductionMultiple human diseases resulting from defects in the endoplasmic reticulum (ER)-to-Golgi transport have been reported over the past 14 years (Table 1). Anderson disease or chylomicron retention disorder (CMRD), 1 a disease characterized by malabsorption of lipids from the diet and accumulation of chylomicrons in the enterocytes, results from mutations in SAR1B, a component of coat protein complex II (COPII)-coated vesicles that bud from the surface of the ER and transport cargo proteins to the Golgi apparatus. Patients with CMRD exhibit failure to thrive in infancy, absence of circulating chylomicrons, low levels of plasma cholesterol, and deficiency of fat-soluble vitamins. Mutations in SEC23A, another component of the COPII coat, result in cranio-lenticulosutural-dysplasia (CLSD), 2 an autosomal recessive syndrome characterized by sutural cataracts, late closure of the cranial fontanelles, skeletal abnormalities, and dysmorphic facial features. Only 2 CLSD pedigrees have been reported, each with a different missense mutation. 2,3 Defects in the ER export machinery have been reported to cause 2 hematologic diseases, combined deficiency of coagulation factors V (FV) and VIII (FVIII) (F5F8D) and congenital dyserythropoietic anemia type II (CDAII). F5F8D is characterized by a decrease in FV and FVIII levels to ϳ 10% of normal with generally mild bleeding manifestations. This disorder results from mutations in either LMAN1 4 (lectin mannose-binding protein 1) or MCFD2 5 (multiple coagulation factor deficiency protein 2), 2 genes that encode the components of a specific ER cargo receptor for FV and FVIII. CDAII results from mutation in SEC23B, a paralog of SEC23A in mammals. CDAII is characterized by mild to moderate anemia, bi-or multinucleated erythroblasts, aberrant glycosylation of erythrocyte band 3, and red blood cell (RBC) lysis in some (but not all) acidified normal sera.Although no human diseases resulting from defects in other components of the early secretory pathway have been reported to date, animal models of defects in Sec24B, Sec24C, and Sec24D, have been described [6][7][8] (Table 1), again reflecting a range of manifestations, from no apparent phenotype (zebrafish Sec24C), 8 to a unique neural tube developmental defect (murine Sec24B) 7,12 to characteristic skeletal malformations (zebrafish Sec24D). 8 A general overview of the Mendelian disorders resulting from defects in the membrane trafficking machinery was recently published. 13 In this review, we focus on the 2 hematologic diseases F5F8D indicates combined deficiency of coagulation factors V and VIII; CMRD, chylomicron retention disorder; CLSD, cranio-lenticulo-sutural-dysplasia; CDAII, congenital dyserythropoietic anemia type II; and NR, none reported.*Morphant zebrafish models (where the zebrafish have been treated with a morpholino antisense oligonucleotide to "knockdown" the expression of the gene of interest). †Mutant zebrafish models. 31BLOOD, 5 JULY 2012 ⅐ VOLUME 120, NUMBER 1For personal use only. on April 28, 2019. by gue...

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Section: Pathogenesis Of Cdaiimentioning

confidence: 88%

The COPII pathway and hematologic disease

Khoriaty

Vasievich

Ginsburg

2012

Blood

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“…Thus, it is surprising that deficiency of a key, ubiquitously expressed component of the COPII coat, SEC23B, results in a phenotype that is apparently restricted to the red blood cell. Reports of curative allogeneic bone marrow transplantation for CDAII suggest that the mechanism responsible for the erythroid defect is intrinsic to the hematopoietic compartment (9,16,17).…”

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confidence: 99%

Absence of a Red Blood Cell Phenotype in Mice with Hematopoietic Deficiency of SEC23B

Khoriaty

Vasievich

Jones

et al. 2014

Molecular and Cellular Biology

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f Congenital dyserythropoietic anemia type II (CDAII) is an autosomal recessive disease of ineffective erythropoiesis characterized by increased bi/multinucleated erythroid precursors in the bone marrow. CDAII results from mutations in SEC23B. The SEC23 protein is a core component of coat protein complex II-coated vesicles, which transport secretory proteins from the endoplasmic reticulum to the Golgi apparatus. Though the genetic defect underlying CDAII has been identified, the pathophysiology of this disease remains unknown. We previously reported that SEC23B-deficient mice die perinatally, exhibiting massive pancreatic degeneration, with this early mortality limiting evaluation of the adult hematopoietic compartment. We now report that mice with SEC23B deficiency restricted to the hematopoietic compartment survive normally and do not exhibit anemia or other CDAII characteristics. We also demonstrate that SEC23B-deficient hematopoietic stem cells (HSC) do not exhibit a disadvantage at reconstituting hematopoiesis when compared directly to wild-type HSC in a competitive repopulation assay. Secondary bone marrow transplants demonstrated continued equivalence of SEC23B-deficient and WT HSC in their hematopoietic reconstitution potential. The surprising discordance in phenotypes between SEC23B-deficient mice and humans may reflect an evolutionary shift in SEC23 paralog function and/or expression, or a change in a specific COPII cargo critical for erythropoiesis.

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“…1 Intrauterine blood transfusions have been administered before to fetuses with homozygous a-thalassemia and other hematologic disorders associated with fetal demise. 6,7 It is rare for nontransfused fetuses to survive postnatally; reported survivors have generally required resuscitation at birth. [2][3][4][5] Once a patient is stabilized on a chronic transfusion regimen, the medical issues are comparable to those of children with b-thalassemia major.…”

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confidence: 99%