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Items: 2

1.

Decreased mean corpuscular hemoglobin concentration

A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced. [from HPO]

MedGen UID:
605648
Concept ID:
C0427437
Finding
2.

Dominant beta-thalassemia

Dominantly inherited inclusion body beta-thalassemia is characterized by the presence of inclusion bodies in red blood cell precursors, moderately severe anemia, jaundice, and splenomegaly (summary by Ropero et al., 2005). [from OMIM]

MedGen UID:
347036
Concept ID:
C1858990
Disease or Syndrome

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