Successful hematopoietic reconstitution by transplantation of umbilical cord blood cells in a transfusion-dependent child with Diamond–Blackfan anemia

Abstract

Summary:Case reportA 4-year-old boy was first noted to have severe anemia at A 4-year-old boy with Diamond-Blackfan anemia and a history of multiple transfusions underwent umbilical 1 month of age. An evaluation showed hemoglobin 50 g/l, white blood cell count 5.5 × 10 9 /l with normal distribution, cord blood transplantation from his HLA-identical female sibling born by vaginal delivery at 38 weeks. The platelet count 385 × 10 9 /l, and 0% reticulocyte. The bone marrow showed marked erythroid hypoplasia with no patient was prepared with busulfan, cyclophosphamide and antilymphocyte globulin. Methotrexate and cycloabnormal cells and a diagnosis of Diamond-Blackfan anemia was confirmed. He was 2680 g at birth, the product sporin A were given for the prophylaxis of GVHD. Regimen-related toxicity was not observed and successful of a full-term, uncomplicated gestation. The parents were healthy and there was no consanguinity or family history engraftment occurred, including the erythroid series. No evidence of acute or chronic GVHD has been of hematological disorders. Several therapeutic approaches including intravenous high-dose methylprednisolone and observed for 14 months after transplantation. This is the first case of successful umbilical cord blood transoral corticosteroids had been tried. However, they had only a transient effect on the progressive anemia, and the patient plantation to a patient with Diamond-Blackfan anemia. Keywords: cord blood transplantation; Diamondbecame steroid-resistant and transfusion-dependent. He received 60 units of filtered and irradiated packed red cells Blackfan anemia; childhood; hemosiderosis before transplantation without any iron-chelating therapy. His HLA-type was A24, 31; B51, 52; DR15(2), 4; DQ1, 4, and not identical to the parents and a sibling (father: Diamond-Blackfan anemia is a disorder of childhood A31, 33; B44, 52; DR15(2), 8; DQ1, mother: A24, 33; B44, characterized by normochromic-macrocytic anemia, reti-51; DR4, 13; DQ1, 4, brother: A31, 33; B44, 52). culocytopenia and a normocellular marrow with a selective At 3 years of age, he displayed signs of iron overload deficiency of erythroid progenitors. Most patients respond including elevations of serum transaminase, iron and ferrito corticosteroids initially. However, about 60% require tin. CT scan showed a marked increase in the density of chronic red cell transfusion and die in the second and third the liver parenchyma, which was consistent with liver decade of life as a result of hemosiderosis. 1 Allogeneic hemosiderosis. Echocardiography revealed mild left ven-BMT is already accepted as effective therapy for steroidtricular dilatation and grade II mitral regurgitation with norresistant, transfusion-dependent patients with Diamondmal wall mobility. His mother became pregnant and a girl Blackfan anemia. 2-5 However, the limited availability of was delivered vaginally at 38 weeks without any complisuitable donors remains a problem. Recently, unbilical cord cations. At the time of delivery, 70 ml of cord blood was b...

Hematopoietic stem cell transplantation for Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry

“…Over the past two decades additional selected case reports have been cited in the literature. [7][8][9][10][11][12][13][14][15][16][17][18][20][21][22][23] The majority of these transplants were performed using HLA-matched sibling donors. As well, a series of 10 patients (eight of 10 from HLA-matched allogeneic siblings) has been reported by the International Bone Marrow Transplantation Registry 19 and 13 transplants (11 of 13 from HLA-matched allogeneic siblings) were compiled by the French registry.…”

“…6 The patient died of interstitial pneumonitis on day ϩ55, but hematopoietic engraftment from donor bone marrow confirmed DBA as a transplantable disease. Since the initial case, 50 additional transplants, virtually all from HLA-matched sibling donors, have appeared in the literature, [7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24] the majority done prior to 1993. We now describe 20 stem cell transplants (SCT), 12 utilizing alternative donors, in DBA patients reported to the Diamond Blackfan Anemia Registry of North America (DBAR), all performed since 1993.…”

Epstein–Barr virus-associated lymphoproliferative disease after a cord blood transplant for Diamond–Blackfan anemia

“…Since the first successful BMT published in 1976, 21 more than 31 BMT for DBA have been reported and 10 patients have died of rejection, GVHD and/or infections. [21][22][23] To date, six CBT from HLAmatched siblings [8][9][10][11][12] and at least five unrelated CBT for DBA, 4,24,25 have been published. Of these cases, information from four related or one unrelated CBT are summarized in Table 2.…”

“…Despite the rapid increase in the number of CBT, post-transplant LPD has Correspondence: Dr S Ohga, Department of Pediatrics, Graduate School of Medicine Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan Received 28 April 1999; accepted 23 September 1999 never been reported. To date, at least five successful CBT have been performed for DBA, [8][9][10][11][12] although the indications for bone marrow (BM) failure syndromes are still controversial.…”

Successful nonmyeloablative bone marrow transplantation in a corticosteroid-resistant infant with Diamond–Blackfan anemia

“…[1][2][3][4] Diamond-Blackfan anemia (DBA) is a childhood disorder characterized by normochromic-macrocytic anemia, reticulocytopenia and normocellular bone marrow with a selective deficiency of erythroid progenitors. 5 Most patients initially respond to corticosteroids, but about 60% of patients require chronic red cell transfusions and die from hemosiderosis in the second or third decade of life. Allogeneic bone marrow transplantation (BMT) is an effective therapy for steroid-resistant, transfusion-dependent DBA with survival rates of 60-80% in patients transplanted from HLA-matched related donors.…”