Hematopoietic Cell Transplantation for Congenital Dyserythropoietic Anemia: A Report from the Pediatric Transplant and Cellular Therapy Consortium

Rangarajan, Hemalatha G.; Stanek, Joseph; Abdel‐Azim, Hisham; Modi, Arunkumar; Haight, Ann E.; McKinney, Christopher; McKeone, Daniel; Buchbinder, David; Katsanis, Emmanuel; Abusin, Ghada; Ahmed, Ibrahim; Law, Jason; Silva, Jorge Galvez; Mallhi, Kanwaldeep; Burroughs, Lauri M.; Shah, Niketa C.; Shaw, Peter J.; Greiner, Robert; Shenoy, Shalini; Pulsipher, Michael A.; Abu‐Arja, Rolla

doi:10.1016/j.jtct.2022.03.007

Cited by 7 publications

(4 citation statements)

References 32 publications

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“…However, haematopoietic cell transplantation (HCT) stands as the only possible definitive cure for CDA. A study done by Rangarajan et al 3 indicated HCT as a possible cure for patients with CDA. It also highlighted other simultaneous measures of prompt chelation, preconditioning therapy and early HCT in the presence of a suitable donor, which can help improve the success rate of HCT.…”

Section: Treatmentmentioning

confidence: 99%

SEC23Bmissense mutation-associated congenital dyserythropoietic anaemia type II in a child: a rare mimic of chronic haemolytic anaemia

Alam

Mandal

et al. 2022

BMJ Case Rep

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We report a case of congenital dyserythropoietic anaemia (CDA) type II in a female child, which is an extremely rare cause of hereditary anaemia. The patient, still in her early childhood, presented to us with transfusion-dependent anaemia, unexplained jaundice, passage of cola-coloured urine and hepatosplenomegaly. Further investigations revealed evidence of iron overload, ineffective erythropoiesis and inadequate bone marrow response. Bone marrow aspiration study demonstrated dyserythropoiesis and findings typical of CDA type II. Targeted exome genome sequencing was done and identified heterozygous missense mutation of the SEC23B gene. CDA, being clinically similar to other more prevalent causes of anaemia, should be kept in mind especially when the common causes have already been ruled out.

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Section: Treatmentmentioning

confidence: 99%

SEC23Bmissense mutation-associated congenital dyserythropoietic anaemia type II in a child: a rare mimic of chronic haemolytic anaemia

Alam

Mandal

et al. 2022

BMJ Case Rep

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“…5 The variant c.2819-2828delinsTAT (p.Arg940IlefsTer35) Previous reports from large cohorts revealed that allo-HSCT could be curative for patients with CDA. 11,12 However, no patients with CDA type III were included in these reports. 11,12 A case of CDA type III with RACGAP1 mutation has been reported to receive PBSCT with the RIC regimen because he was transfusion dependent.…”

mentioning

confidence: 99%

“…11,12 However, no patients with CDA type III were included in these reports. 11,12 A case of CDA type III with RACGAP1 mutation has been reported to receive PBSCT with the RIC regimen because he was transfusion dependent. 4,6 Further studies are required to reveal the role of allo-HSCT and the optimal intensity of conditioning regimen in CDA type III.…”

mentioning

confidence: 99%

Novel mutation in KIF23 causing congenital dyserythropoietic anemia type III in patients who underwent allogeneic hematopoietic stem cell transplantation

Fujikawa,

Uemura,

Hasegawa

et al. 2024

Pediatric Blood & Cancer

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Congenital dyserythropoietic anemia (CDA) is a rare and heterogeneous group of inherited anemias characterized by ineffective erythropoiesis and morphological abnormalities of erythrocytes. 1 CDA type III (OMIM 105600) is the rarest subtype of CDA. 1 A study in two independent families identified a causative dominant missense mutation in KIF23. 2 KIF23 encodes mitotic kinesin-like protein (MKLP1), which combines with a homodimer of the RACGAP1 protein to form centralspindlin, a key regulator of cytokinesis 2,3 Depletion of MKLP1 leads to the formation of large multinucleate erythroblasts due to cytokinesis failure. 2 Recently, mutations in RACGAP1 have been described in CDA type III families. 3,4 Most CDA type III cases present with mildto-moderate anemia, and transfusion is rarely needed. [3][4][5][6] Because of

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“…In a review of 39 patients by the European Society for Blood and Marrow Transplantation, the average transplant rejection rate was 12% (ranging from 1-23%). The 3-year overall and event-free survival rates were 71% and 45%, respectively [45]. Iron overload should be addressed prior to transplantation as it is an important aspect.…”

mentioning

confidence: 99%

A case report of congenital dyserythropoietic anemia type II with a novel SEC23B mutation and accompanied by a large segmental deletion and literature review

Liu,

Du,

Liu

2024

Preprint

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Congenital dyserythropoietic anemia (CDA) is a rare heterogeneous hereditary disorder characterized by ineffective erythropoiesis and morphological abnormalities of erythrocytes and bone marrow erythroblasts. Currently, six types of CDA with different genetic mutations have been identified, with CDAII being the most prevalent. CDA II is an autosomal recessive disorder with the causative gene on the SEC23B gene at 20q11.2. To date, 110 mutations in the SEC23B gene have been reported in CDA II. This paper reports a case of congenital dyserythropoietic anemia type II caused by a new SEC23B mutation and accompanied by a large segmental deletion at the SEC23B gene locus. In addition, we reviewed the diagnostic and therapeutic advances in CADII

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Hematopoietic Cell Transplantation for Congenital Dyserythropoietic Anemia: A Report from the Pediatric Transplant and Cellular Therapy Consortium

Cited by 7 publications

References 32 publications

SEC23Bmissense mutation-associated congenital dyserythropoietic anaemia type II in a child: a rare mimic of chronic haemolytic anaemia

SEC23Bmissense mutation-associated congenital dyserythropoietic anaemia type II in a child: a rare mimic of chronic haemolytic anaemia

Novel mutation in KIF23 causing congenital dyserythropoietic anemia type III in patients who underwent allogeneic hematopoietic stem cell transplantation

A case report of congenital dyserythropoietic anemia type II with a novel SEC23B mutation and accompanied by a large segmental deletion and literature review

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