Physician: Thalassemia

print
bookmark
comment
  • Currently 0/5 Stars.
You may use the stars on the left to rate and leave feedback for the current article. No registration is required. Waiting for 5 votes 0.0 of 5 stars (0 votes) — Thanks for your vote

Please fill out the following optional information before submitting your rating:



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:

  1. Thalassemias : which are caused by quantitative deficiencies in the in the production of globulin chains which are used to produce hemoglobin. These defects generally produce anemia of varying degrees depending on severity.
  2. Structural abnormalities of globin chain production causing a defect in the shape of the blood cells. Examples of this type of anemia would be an illness called Sickle Cell disease.

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.

  1. Silent Carrier: has one gene deletion. They are asymptomatic and have normal blood findings.
  2. Alpha-Thalassemia Trait: 2 gene deletions, they have normal or slightly decreased hemoglobin (blood levels) causing a mild anemia.
  3. Hemoglobin H disease: 3 gene deletions. They have mild to moderately severe anemia.
  4. Hydrops fetalis: 4 gene deletions. They have severe intrauterine anemia, asphyxia, and usually expire shortly after birth.

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?

  1. Usually patients with HbH disease can lead relatively normal lives.
  2. They may require repeated blood transfusions, and after many years of therapy may result in a complication of iron overload.
  3. Large spleen which may require its removal.
  4. Susceptibility to bacterial infection after the removal of the spleen.
  5. Many children are kept on prophylactic penicillin therapy to ward off infection.
  6. Severe hemolytic anemia episodes which may easily be triggered in times of stress, infections with viral illness or may even by certain types of medications such as sulfur.
  7. Gallstones and abdominal pain all secondary to pigment stone collection caused by prolonged destruction of red blood cells. Surgical removal of gallstones to alleviate the abdominal pain.
Now back to the original question that the parents say they are not carriers and are not ill. I believe that they are not ill but are more than likely both silent carriers of the disease or have the thalassemia trait or some combination of this. Because of the rules in genetics, it is possible to have three other children that are not ill with the severe form of the disease, but they may also be silent carriers or have the thalassemia trait. From the clinical description of this child's medical scenario, the diagnosis may be accurate. Good follow-up with a Pediatric Hematologist is essential to the management of this disease.

by George Rogu, M.D.

Submit Your Question

Disclaimer

The information and advice provided is intended to be general information, NOT as advice on how to deal with a particular child's situation and or problem. If your child has a specific problem you need to ask your pediatrician about it - only after a careful history and physical exam can a medical diagnosis and/or treatment plan be made. This Web site does not constitute a physician-patient relationship.

This material has been provided by AdoptionDoctors.com, an innovative adoption medicine private practice and educational service, dedicated to helping parents and adoption agencies with the complex pre-adoption medical issues of internationally adopted children. All medical interactions are performed via, e-mail, express mail, telephone, and fax. There is no need to make a live appointment or travel outside of your hometown. For more information, visit AdoptionDoctors.com or call 631-499-4114.

Related Topics
Visitor Comments (0) - Be the first to comment
Adding your comments contributes to the adoption community. Please keep all comments on topic and civil. Visitors are invited to comment and vote for or flag comments based on appropriateness and helpfulness. All comments must adhere to our commenting rules and are subject to moderation.

To see local International Adoption resources, please select a location (U.S. only):


Need a Home Study?
Adoption Photolisting
Suzie (PA / 11 / F)
Suzie is a young lady with an engaging smile who is shy at first until she gets to know someone. She enjoys reading the "Harry Potter" series of books as well as... [more]
Directory of Adoption Professionals
Find a professional
for all of your adoption needs including:

Note: Our authors are dedicated to honest, engaged, informed, intelligent, and open conversation about adoption. The opinions expressed here may not reflect the views of Adoption.com.

Settings Help Feedback
Template Settings
Width: 1024     1280
Choose a Location:
Choose a Theme: