J Hematol

Journal of Hematology, ISSN 1927-1212 print, 1927-1220 online, Open Access

Article copyright, the authors; Journal compilation copyright, J Hematol and Elmer Press Inc

Journal website https://jh.elmerpub.com

Case Report

Volume 15, Number 4, August 2026, pages 214-218

Post-Transplant Cyclophosphamide-Based Related Haploidentical Transplantation for Adult Diamond-Blackfan Anemia: Long-Term Survival and Review

↓ Figure 1. Clinical course of the patient. Adult DBA engrafted after related PT-Cy haplo-PBSCT. Acute skin GVHD developed. However, tacrolimus was discontinued due to malabsorption failing to reach therapeutic levels, and GVHD was managed with methylprednisolone and MMF. GI-GVHD precluded oral medication absorption, requiring management with methylprednisolone monotherapy. After engraftment, the patient achieved complete independence from RBC transfusions. aGVHD: acute graft-versus-host disease; Bu: busulfan (6.4 mg/kg); DBA: Diamond-Blackfan anemia; Flu: fludarabine (150 mg/m²); G-CSF: granulocyte-colony stimulating factor; haplo-PBSCT: haploidentical peripheral blood stem cell transplantation; Hb: hemoglobin; Mel: melphalan (140 mg/m²); MMF: mycophenolate mofetil; mPSL: methylprednisolone; PT-Cy: posttransplant-cyclophosphamide; ret: reticulocyte count; WBC: white blood cell.

Study	Age/sex	Prior therapy	Donor type	HLA	Stem cell source	Conditioning regimen	CD34⁺ cells/kg (/10⁶)	Engraftment Neutrophil RBC/Platelet	GVHD acute chronic	Infection by day100	Outcome	F/U(M)
BM: bone marrow; Bu: busulfan; Cy: cyclophosphamide; F/U: follow-up; Flu: fludarabine; GI: gastrointestinal; GVHD: graft-versus-host disease; HLA: human leukocyte antigen; Mel: melphalan; PBSC: peripheral blood stem cell; rATG: rabbit anti-thymocyte globulin; TBI: total body irradiation.
Leick, et al
	39/M	Steroid	Brother	Haplo	BM	Flu/Cy/TBI2Gy (+rATG?)	1.54	21	0	None	Alive	63
								N/A / 43	none
	39/M	Steroid	Cousin	Haplo	BM	Flu/Cy/TBI2Gy (+rATG?)	3.69	21	I (skin stage 1)	None	Alive	12
		Testosterone						N/A / 35	Limited (eye)
Wirk, et al
	35/M	Steroid	Unrelated	Match	PBSC	Flu/Cy/rATG/TBI4Gy	5.94	14	0	None	Alive	15
								N/A / 14	None
Our case	21/F	Steroid	Father	Haplo	PBSC	Flu/Mel/Bu	5.36	16	II (skin, GI)	None	Alive	62
								20 / 31	Limited (eye)