Abnormal Hemoglobin
Hemoglobin abnormalities are the group of blood disorders that affect
the normal functioning of the hemoglobin in the red blood cells. These
are genetic disorders that results in the altered size and shape of the
red blood cells, thereby decreasing the oxygen-carrying capacity of the
blood.
Hemoglobin is chains of iron-containing protein structures that
comprises of alpha, beta, gamma and delta globin chains. Any change in
the structure of the globin chains results in the occurrence of
hemoglobin abnormalities. The common hemoglobin disorders include sickle
cell anemia, thalassemia, and hemolytic anemia.
Hemoglobin abnormalities is a global issue wherein 7% of the
world’s population are carriers of the defective gene. Around 3- 5 lakh
children are reported to be born with hemoglobin disorders each year
with a large number of cases reported in low and middle-income
countries.
Signs and symptoms
The common signs and symptoms of hemoglobin abnormalities include:
Pale skin
Weakness and lethargy
Shortness of breath
Severe abdominal and body pain
Jaundice
Enlarged spleen
Growth abnormalities in children
Conditions where hemoglobin has an abnormal structure include:
Sickle Cell Anemia
Sickle cell anemia is an inherited condition. In people with this
condition, abnormal hemoglobin causes sickle-shaped RBCs. These cells
can get "stuck" in blood vessels. This can cause:
- Pain
- Blood clots
- Increased risk of stroke
Thalassemia
Thalassemia is another inherited disease. Different types are characterized by different hemoglobin abnormalities.5
Alpha thalassemia and beta thalassemia are the two main types. There are also many different subtypes. Symptoms vary from none to severe.
People with thalassemia often have lifelong anemia. They may require frequent blood transfusions.
Thalassemia intermedia is also called "non-transfusion-dependent thalassemia." This kind of thalassemia may not be discovered until adulthood.
NOTE:
Conditions like sickle cell anemia and thalassemia can cause hemoglobin to have an abnormal structure.
Evaluating Hemoglobin Levels
Hemoglobin levels are usually measured as part of a complete blood count (CBC). The results of other lab tests may help identify the cause of hemoglobin problems. These include:
Normal Hemoglobin Ranges
Normal hemoglobin levels vary by age and sex. They're measured in grams per deciliter (g/dL). Normal ranges are:
- Adult male: 13.8-17.2 g/dL
- Adult female: 12.1-15.1 g/dL4
Diagnosis
The diagnosis of hemoglobin abnormalities includes:
Complete blood cell (CBC) count: The complete blood cell count is
done mainly to evaluate the cell count of various components of blood
such as red blood cells, white blood cells and platelets. It also helps
in recognizing the changes in the size and shape of the blood cells.
Reduction in the size and abnormal shape of the red blood cells, which
is not associated with decrease in the blood iron levels, is an
indication of thalassemia.
Blood smear: A blood or peripheral smear is viewed under the
microscope to evaluate the changes in the cell structure of the red
blood cells, white blood cells and blood platelets. An abnormality in
the red blood cell(RBC) can be either smaller than the normal cell size
(microcytic) RBC, paler than the normal colored (hypochromic) RBC,
altered shape of RBC (as seen in sickle-cell anemia) and immature blood
cells.
Hemoglobinopathy evaluation: It is a test to evaluate the
relative changes in the size and quantity of abnormal with normal
hemoglobin. The relative change in the hemoglobin is useful in
confirming the presence of thalassemia or other hemoglobin
DNA analysis: The test is performed to assess the changes in the
genetic pattern of the alpha and beta globin molecules of hemoglobin.
The test is also performed in people with a family history of hemoglobin
abnormalities such as thalassemia and sickle cell anemia to check the
probability of an individual to acquire this condition.
Complications
Hemoglobin disorders eventually causes decreased oxygen supply to
the various organ systems. This can lead to complications such as
delayed growth and heart failure.
Specific complications associated with sickle cell anemia are as follows:
Neurological complications such as stroke and seizures
Eye problems- blindness
Lung diseases- high blood pressure in the lungs (pulmonary hypertension) and scarring of lungs (pulmonary fibrosis)
Painful erection and impotence
Treatment
There are no specific medicines prescribed for the cure of
hemoglobin disorders. However, supportive therapy such as iron and
vitamin supplementation, blood transfusion and stem cell transplantation
can be useful. In certain cases, gene therapy may be recommended to
treat the symptoms of the mutated gene.
https://www.verywellhealth.com/importance-of-hemoglobin-2249107
https://www.apollodiagnostics.in/disease/hemoglobin-abnormalities
https://www.testing.com/tests/hemoglobinopathy-evaluation/
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