Facies Hematopoiesis

I (W. Wertelecki, M.D.) see a facies suggestive that blood forming within the marrow of facial bones or hema-poi-iesis (normally limited to the marrow of long long bones). The following explains why I consider this facies the result of a deformation from the hypertrophy of the marrow of facial bones.

This is an example of a power of Semiology – the transformation of a sign (fact) into a (hypothetical) signal. Furthermore, this facies speaks to you about a hypothetical etiology and pathogenesis.

The enhanced blood poiesis (formation) is due probable to an accelerated destruction (usually by hemolysis) of blood red cells (RBC). One disorder that comes to mind is Thalassemia, a blood disorder prevalent along the coast of the Mediterranean (Thalassos is the Greek name for the Mediterranean sea – this patient is Lebanese). “Thalassemia” results from various gene mutations that alter the structure of hemoglobin (Hb). The combination “Thalassos –aenemia” implies “Mediterranean Anemia”) – cells with abnormal Hb are eliminated more promptly. Please also note a concurrent brown-yellowish color of the facial skin (note however that color recordings are notably inaccurate).

This illustration demonstrates:
1 – transformation of a sign (facies) to a potential signal (thalassemia)
2 – importance to know ethnic and geographic realities (clinical epidemiology)
3 – importance of family history – both parents of this patients most likely are carriers of a Hb gene mutation- if so, they are at risk to generate similarly affected children
4 – should a clinician fail to provide “genetic counseling”, parents may have a basis for legal action for medical malpractice.

It is a major triumph of scientific Medicine that fatal instances of Thalassemia are now cured by bone marrow transplants.

PLEASE see standard sources of medical information concerning hemoglobinopathies.