Table 1.

Hematologic Data From the Proband and His Family

Age Hb (g/dL) Erythro blastosis (%)MCV (fL) Reticulocyte Count (%)Basophilic Stippling Bone Marrow Examination
Patient  Birth  11.2-150 85  
  3 mo  6-151 14  64   84,000  
     7%  
  2 yr  9   50 500,000   Hyperplasia 
     15%  Sideroblasts-152:  46%  
  6 yr  9.2  59  285,000   Hyperplasia 
     8%   Sideroblasts-152:  30%  
 19 yr  11   60  169,000 
     5%  
Father  50 yr  14.2  85   25,000  
     <0.6% 
Mother  49 yr  13.9   80   37,000 
     <0.6%  
Sister  22 yr  13.8  78   32,000  
     <0.6%   
Age Hb (g/dL) Erythro blastosis (%)MCV (fL) Reticulocyte Count (%)Basophilic Stippling Bone Marrow Examination
Patient  Birth  11.2-150 85  
  3 mo  6-151 14  64   84,000  
     7%  
  2 yr  9   50 500,000   Hyperplasia 
     15%  Sideroblasts-152:  46%  
  6 yr  9.2  59  285,000   Hyperplasia 
     8%   Sideroblasts-152:  30%  
 19 yr  11   60  169,000 
     5%  
Father  50 yr  14.2  85   25,000  
     <0.6% 
Mother  49 yr  13.9   80   37,000 
     <0.6%  
Sister  22 yr  13.8  78   32,000  
     <0.6%   

Abbreviations: Hb, hemoglobin; MCV, mean corpuscular volume.

F0-150

Exchange transfusions were performed.

F0-151

A transfusion was performed.

F0-152

No ring sideroblasts.

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