Table 1.

Results of blood and marrow examination


Person, age at time of analysis, y

WBC count, × 109/L (range)*

Neutrophils, × 109/L (range)*

Lymphocytes, × 109/L (range)*

Hemoglobin level, g/L (range)*

MCV, fL (range)*

Platelets, × 109/L (range)*

BM
Patient, 17  1.37 (3.9-10.2)   0.62 (1.9-7.3)   0.52 (0.9-3.5)   68 (117-149)   105.2 (80-95)   13 (165-397)   Abnormal  
Mother, 45   2.5 (4-11)   1.3 (2-8)   0.9 (1-4)   117 (115-160)   102 (80-100)   203 (150-400)   Normal  
Father, 46   4.7 (4-11)   2.4 (2-8)   1.8 (1-4)   145 (135-180)   91 (80-100)   186 (150-400)   Unavailable  
Brother, 16   5.7 (3.9-10.2)   2.8 (1.9-7.3)   2.1 (0.9-3.5)   144 (131-169)   90 (80-95)   187 (165-397)   Unavailable  
Sister, 12   4.4 (3.9-10.2)   2.0 (1.6-7.9)   1.5 (0.9-3.5)   126 (117-149)   92 (77-92)   260 (180-440)   Unavailable  
Maternal cousin, 12   3.1 (3.9-10.2)   0.93 (1.5-5.6)   1.88 (0.9-3.5)   108 (118-146)   94 (77-92)   65 (180-440)   Unavailable  
Maternal aunt, 44   5.42 (4.2-10.8)   3.4 (1.9-7.4)   1.52 (1-3.3)   121 (114-143)   98 (83-98)   141 (160-390)   Unavailable  
Maternal grandmother, 67
 
4.9 (4.2-10.8)
 
2.3 (1.9-7.4)
 
1.6 (1-3.3)
 
99 (114-143)
 
96 (83-98)
 
209 (160-390)
 
Unavailable
 

Person, age at time of analysis, y

WBC count, × 109/L (range)*

Neutrophils, × 109/L (range)*

Lymphocytes, × 109/L (range)*

Hemoglobin level, g/L (range)*

MCV, fL (range)*

Platelets, × 109/L (range)*

BM
Patient, 17  1.37 (3.9-10.2)   0.62 (1.9-7.3)   0.52 (0.9-3.5)   68 (117-149)   105.2 (80-95)   13 (165-397)   Abnormal  
Mother, 45   2.5 (4-11)   1.3 (2-8)   0.9 (1-4)   117 (115-160)   102 (80-100)   203 (150-400)   Normal  
Father, 46   4.7 (4-11)   2.4 (2-8)   1.8 (1-4)   145 (135-180)   91 (80-100)   186 (150-400)   Unavailable  
Brother, 16   5.7 (3.9-10.2)   2.8 (1.9-7.3)   2.1 (0.9-3.5)   144 (131-169)   90 (80-95)   187 (165-397)   Unavailable  
Sister, 12   4.4 (3.9-10.2)   2.0 (1.6-7.9)   1.5 (0.9-3.5)   126 (117-149)   92 (77-92)   260 (180-440)   Unavailable  
Maternal cousin, 12   3.1 (3.9-10.2)   0.93 (1.5-5.6)   1.88 (0.9-3.5)   108 (118-146)   94 (77-92)   65 (180-440)   Unavailable  
Maternal aunt, 44   5.42 (4.2-10.8)   3.4 (1.9-7.4)   1.52 (1-3.3)   121 (114-143)   98 (83-98)   141 (160-390)   Unavailable  
Maternal grandmother, 67
 
4.9 (4.2-10.8)
 
2.3 (1.9-7.4)
 
1.6 (1-3.3)
 
99 (114-143)
 
96 (83-98)
 
209 (160-390)
 
Unavailable
 

WBC indicates white blood cells; MCV, mean corpuscular volume, HBF, fetal hemoglobin.

*

Normal range for given age.

HBF of patient was 16%, less than 1.2% of the normal range.

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