Allogeneic hematopoietic stem cell transplantation in a 3-year-old boy with congenital pyruvate kinase deficiency: A case report

Table 1 Complete blood count of the patient before pyruvate kinase deficiency was diagnosed

Date	CBC
3 h and 56 min after birth	Blood cell count
	RBC	1.6 × 109/L
	MCV	132.5 fL
	MCH	40.6 pg
	MCHC	307 g/L
	HGB	65 g/L
	Reticulocyte count	0.477 × 106/L
	Reticulocyte (%)	29.78%
	Bio-chemistry
	ALT	55.0 U/L
	AST	273.0 U/L
	Total bilirubin	175.4 μmol/l
	Unconjugated bilirubin	159.8 μmol/L
	Blood group
	Group O and Rh positive
	Blood group antibody screening	Negative
	Others
	Coombs test	Negative
	Free antibody test	Negative
	Antibody release test	Negative
12 d old
	RBC	3.7 × 109/L
	HGB	111 g/L
2 mo old
	HGB	HB 57 g/L

CBC: Complete blood count; RBC: Red blood cells; MCV: Merkel cell polyomavirus; MCH: Melanin-concentrating hormone; MCHC: Mean corpuscular hemoglobin concentration; HGB: Blood hemoglobin; ALT: Alternative lengthening of telomeres; AST: Aspartate aminotransferase.

Table 2 Complete blood count of the patient before and after transplantation

Date	CBC
Before transplantation	Blood cell count
	RBC	5.7 × 109/L
	HGB	84 g/L
	Bio-chemistry
	ALT	23 U/L
	AST	46 U/L
	Total bilirubin	28.2 μmol/L
1 mo post transplantation
	WBC	3.9 × 109/L
	ANC	1.23 × 109/L
	HGB	126 g/L
	PLT	109 × 109/L
2 mo post transplantation
	WBC	2.7 × 109/L
	ANC	0.73 × 109/L
	HGB	118 g/L
	PLT	195 × 109/L
6 mo post transplantation
	WBC	4.3 × 109/L
	ANC	1.52 × 109/L
	HGB	119 g/L
	PLT	150 × 109/L
1 year post transplantation
	WBC	5.6 × 109/L
	ANC	1.89 × 109/L
	HGB	119 g/L
	PLT	169 × 109/L

CBC: Complete blood count; RBC: Red blood cells; HGB: Blood hemoglobin; ALT: Alternative lengthening of telomeres; AST: Aspartate aminotransferase; WBC: White blood cell; ANC: Absolute neutrophilic count; PLT: Platelet.

Table 3 Similarity and difference between pyruvate kinase deficiency and thalassemia

	PKD	Thalassemia
Similarity	(1) Both are hemolytic anemia caused by gene abnormality; (2) Both can lead to severe hyperbilirubinemia in neonate period; and (3) Severe cases of both need transfusion regularly
Difference
MCV	Normal	Smaller than the normal
MCH	Normal	Smaller than the normal
MACH	Normal	Smaller than the normal
Hemoglobin electrophoresis	Normal	There are different abnormal bands according to different types
Type of gene abnormality	Mutation of the PKLR gene which codes the enzyme of pyruvate kinase in red blood cells	Mutation of the gene which codes the globin chains

PKD: Pyruvate kinase deficiency; MCV: Mean corpuscular volume; MCH: Mean corpuscular hemoglobin; MCHC: Mean corpuscular hemoglobin concentration.