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Hemoglobinopties 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 Hemoglobinopaties:

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 Thalsemia 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 Thalasemia
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.

A) Silent Carrier: has one gene deletion. They are asymptomatic and have normal blood findings.

B) Alpha-Thalsemia Trait: 2 gene deletions, they have normal or slightly decreased hemoglobin
(blood levels) causing a mild anemia.

C) Hemoglobin H disease: 3 gene deletions. They have mild to moderately severe anemia.

D) Hydrops fetalis: 4 gene deletions. They have severe intrauterine anemia, asphyxia, and
usually expire shortly after birth.

blood In-patients with Hemoglobin H disease, or 3 gene deletions, these patents 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 finding 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
thalsemia 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 thalasemia 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

Note: 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 website does not constitute a physician patient relationship

Article Source: International Adoption Articles Directory


What is Thalassemia Minor?

In Thalassemia minor, the hemoglobin genes are inherited during conception, one from the
mother (egg) and one from the father (sperm). People with a Thalassemia trait in one gene
are known as carriers or are said to have Thalassemia minor. The only way to know if you
carry the Thalassemia trait is to have a special blood test called hemoglobin electrophoresis
which can identify the gene. The carriers of Thalassemia minor become anemic or slightly
anemic.

If you, your parents, or ancestors are from 'Thalassemia regions' (identified in What is Thal),
request a test from your doctor. It is vitally important to identify yourself as a possible carrier
of Thalassemia minor. Possessing the Thalassemia minor trait gives you a 25%, (1 in 4)
chance of having a baby with Thalassemia major, providing that both parents of the child are
both carriers of the disorder. Increased awareness is the key to prevention.

Thalassemia Intermedia is a milder form of Thalassemia that is caused by the of one of the more severe
thalassemic genes and one of the milder thalassemic genes. Children with Thalassemia intermedia start
to develop symptoms later in life than those with Thalassemia major, usually becoming pale and
developing symptoms around 2 years of age. They are moderately anemic but a large number of the
patients survive without regular blood transfusions.

The severity of Thalassemia intermedia isn't determined by hemaglobin levels alone; it also depends on
how the individual's feelings, and their growth rate and development. Unfortunately, there isnt a much of
a clear distinction between Thalassemia intermedia and Thalassemia major.
What is Thalassemia Major

The severe form of Thalassemia, Thalassemia major, occurs when a child inherits two
mutated genes, one from each parent. Children born with Thalassemia major usually develop
the symptoms of severe anemia within the first year of life. They lack the ability to produce
normal adult hemoglobin (red blood cells). Children with Thalassemia major are so chronically
fatigued they fail to thrive and do not grow normally. Left untreated, this disorder will cause
bone deformities and eventually will lead to death within the first decade of the childs life.

The only treatments that are provided to patients are regular transfusions of red blood cells.
Thalassemia major patients require transfusions of red blood cells, every 4 to 6 weeks
depending on the individuals consumption of the infused cells. The complication that results
from constant blood transfusions is iron overload, also known as secondary hemochromatosis.
Once iron is stored in the organs, it will eventually lead to organ failure and will lead to death.

Iron is a component of hemoglobin, essential to the body, but once red blood cells break
down the excess iron cannot be removed, resulting in the absorption of too much iron in the
body. It is necessary that this excess iron be removed because it stores in the vital organs of
the body, such as the heart and liver. Fortunately, a drug called Desferrioxamine (Desferal) is
designed to remove the excess iron from the thalassemic patient.

Although, Desferal has significantly changed the prognosis of patients with Thalassemia
major, many of the patients find the nightly 10-12 hour infusions of Desferal tedious, have
difficulty with compliance, and find the pump-injected medication painful. Currently, this is
the only treatment available to Thalassemia patients, a cure needs to be found.

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