Your job takes you to a public health office in a small Texas community borderin
ID: 3473962 • Letter: Y
Question
Your job takes you to a public health office in a small Texas community bordering Mexico. An indigent family comes by to get advice about their ill infant. The child was admitted to the hospital one month after birth because of severe dehydration. The hospital staff concluded that the dehydration may have been due to periodic episodes of diarrhea and vomiting. They treated the child until she appeared normal and sent her home with the parents. The child has grown slowly from its original 7.2 lb birth weight. Now, she is beginning to lose weight again at six months old. You notice that the child has a faint blue tinge to her skin and seems very inactive or lethargic for a baby. The parents explain that the child has a low body temperature, does not feed well, and still has mild bouts of vomiting and diarrhea. It is the job of the public health office to determine whether the child needs more assistance for her apparent illness. The office must figure out what type of physician or medical care is needed. Determine the possible cellular problems causing this set of conditions.
Explanation / Answer
Based on the symptoms most likely the child has a variant of anemia (most probably sickle cell anemia). The blue tinge to the skin can be explained by cyanosis (bluish or purplish discoloration of the skin due to tissues near the skin surface having low oxygen saturation), a symptom associated with anemia. Weight loss, lethargy and lack of appetite (does not feed well) are also classic symptoms of anemia.
Now coming to the cellular problems, if its sickle cell disease then it is present at birth. But most infants do not have any problems from the disease until they are about 6 months of age (like in this case). Sickle cell anemia is caused by mutations in the HBB gene. HBB gene mutation produces abnormal versions of beta-globin like hemoglobin S, hemoglobin C and hemoglobin E. Depending on the type of sickle cell disease the normal hemoglobin in the cells is replaced in part or fully by the mutated variants.
The child needs to be referred to a hematologist for further testing.
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