We have been referred a 5th child that we just found out has HbH disease (a kind of Thalassemia intermediate). The orphanage in Taiwan says that the parents are denying being carriers and are being genetically tested and that the other 3 children of the birthparents do not have the condition. Is this a life threatening ailment or a chronic medical condition that may be medically managed?
Hemoglobinopathies are disorders of blood cell structure and they may occur in many different ethnic groups, such as African, Asian, Mediterranean or Middle Eastern decent. There are two major types of Hemoglobinopathies:
In this article we will talk about the Thalassemia syndromes and in particular about Hemoglobin H disease.
In order for the human body to make normal hemoglobin, which is required to transport oxygen to all our vital organs, normal cells must have 4 alpha globin genes. In the Thalassemia disorders, there is a genetic defect or deletion in one to four of these alpha-globin genes on a chromosome #16. The severity of the syndrome is related to the number of gene deletions.
Patients with Hemoglobin H disease, or 3 gene deletions, may be symptomatic and have secondary complications of hemolytic anemia. Patients with HbH disease can generally have moderate to severe anemia, with low hemoglobin levels of 7-10g/dl. Other common medical findings would be paleness, jaundice (or yellowness), large liver and spleen, increased susceptibility to infections, leg ulcers and pigment gallstones which occur after prolonged breakdown of red blood cells, can cause recurrent abdominal pain and may require surgery. Deficiency in Folic acid may also occur.
Complications that can occur in children with HbH disease are generally the result of intermittent exacerbation of their anemia, which may require repeated blood transfusions. These episodes of hemolytic anemia generally are precipitated by certain drugs or by a parvovirus infection. Usually patients with HbH disease can lead fairly normal lives with relatively few blood transfusions. Transfusion therapy is usually reserved for patients with severe anemia (usually less than 7g/dl) and with symptomatic anemia.
Another complication of this disease is the enlargement of the spleen with worsening of the anemia. Many times this requires the removal of the spleen itself, and then you have all the complications other than just that of surgery, which is the susceptibility to bacterial infections. Usually removal of the spleen is reserved for patients with symptoms of large spleen, as reflected by leukopenia (decreased white blood cell levels) thrombocytopenia (decreased platelet count) and worsening anemia or, in-patients who were previously stable and develop blood transfusion requirement.
What does the medical future of this child have in store for this adoptive family?
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