cbc report of thalessemia patient

What is the thalassemia clinical research network?

The Thalassemia Clinical Research Network (TCRN) was a multi-institutional, NIH-sponsored network established to evaluate clinical complications and treatment strategies for patients with thalassemia. Several studies have emerged from this network and have been fully described elsewhere (Table I).

How does thalassemia affect red blood cell count?

People with thalassemias have fewer healthy red blood cells and less hemoglobin than normal; those with alpha or beta thalassemia trait may have smaller-than-normal red blood cells. A reticulocyte count (a measure of young red blood cells) may indicate that your bone marrow is not producing an adequate number of red blood cells.

Is chronic transfusion therapy safe for Thalassemia patients?

Abstract Chronic transfusion therapy has played a central role in extending life expectancy for patients with hemoglobinopathies such as thalassemia. However, this life saving therapy is associated with numerous complications that now comprise the bulk of management considerations for patients with thalassemia.

What is the prognosis for patients with thalassemias?

Patients with moderate or severe thalassemias have a good chance of long-term survival as long as they follow their treatment program (transfusions and iron chelation therapy). Heart disease from iron overload is the leading cause of death in patients with thalassemias, so keeping up with your iron chelation therapy is extremely important.

Does thalassemia show on CBC?

Doctors diagnose thalassemias using blood tests, including a complete blood count (CBC) and special hemoglobin tests. A CBC measures the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood.

What does a CBC look like with thalassemia?

A complete blood count (CBC), which includes measures of hemoglobin and the quantity (and size) of red blood cells. People with thalassemias have fewer healthy red blood cells and less hemoglobin than normal; those with alpha or beta thalassemia trait may have smaller-than-normal red blood cells.

What is normal report of thalassemia?

Thalassemia major is characterized by reduced Hb level (<7 g/dl), mean corpuscolar volume (MCV) > 50 < 70 fl and mean corpuscolar Hb (MCH) > 12< 20 pg. Thalassemia intermedia is characterized by Hb level between 7 and 10 g/dl, MCV between 50 and 80 fl and MCH between 16 and 24 pg.

Is WBC increased in thalassemia?

Hypersplenism can contribute to anemia in individuals with beta thalassemia and cause low levels of white blood cells, increasing the risk of infection, and low levels of platelets, which can lead to prolonged bleeding. If untreated, additional complications can develop.

Why is RBC count high in thalassemia?

In beta-thalassemia major, anemia is severe, often with hemoglobin ≤ 6 g/dL (≤ 60 g/L). Red blood cell count is elevated relative to hemoglobin because the cells are very microcytic.

Does low MCV mean thalassemia?

Patients who have thalassemia have an anemia associated with microcytosis (low MCV) and hypochromia (low MCH), although the extent of anemia can be highly variable.

Is ferritin normal in thalassemia?

Most patients with alpha and beta-thalassemia (minor, intermediate, and major thalassemia) had normal and high serum ferritin levels.

Is Rdw high in thalassemia?

Until now, many studies have shown a high efficacy of RDW in distinguishing IDA from the thalassemia trait, but this has not been the same for thalassemia disease. Our study used RDW for differentiating between IDA and NTDT in adults with moderate to severe microcytic anemia, according to the WHO classification.

Is hemoglobin low in thalassemia?

Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving you fatigued. If you have mild thalassemia, you might not need treatment.

Can normal blood test detect thalassemia?

If your doctor suspects your child has thalassemia, he or she can confirm a diagnosis with blood tests. Blood tests can reveal the number of red blood cells and abnormalities in size, shape or color. Blood tests can also be used for DNA analysis to look for mutated genes.

Does thalassemia cause high platelets?

Patients with thalassemia, especially after splenectomy and with high platelet counts might be hypercoagulable. Chronic small pulmonary emboli can lead to pulmonary hypertension over time.

How can you differentiate between iron deficiency anemia and thalassemia depending on CBC?

The two best measures or calculations from the CBC are the Red Blood Cell count alone (RBC) and the Mentzer Index (MCV/RBC). An RBC above 5 x 1012/l is often seen in thalassemia, while a count <5 is more typical of iron deficiency.

What is the trait of thalassemia?

People who have alpha or beta thalassemia trait may have red blood cells that are smaller than normal. Hemoglobin tests measure the types of hemoglobin in a blood sample. People who have thalassemias have problems with the alpha or beta globin protein chains of hemoglobin.

Why is thalassemia a genetic disorder?

Because thalassemias are passed from parents to children through genes, family genetic studies also can help diagnose the disorder.

What does CBC mean in blood?

A CBC measures the amount of hemoglobin and the different kinds of blood cells, such as red blood cells, in a sample of blood. People who have thalassemias have fewer healthy red blood cells and less hemoglobin than normal in their blood. People who have alpha or beta thalassemia trait may have red blood cells that are smaller than normal.

Can thalassemia be diagnosed?

People who have milder forms of thalassemia might be diagnosed after a routine blood test shows they have anemia. Doctors might suspect thalassemia if a person has anemia and is a member of an ethnic group that's at increased risk for thalassemias.

Can thalassemia be passed to children?

The tests will show whether any family members have missing or altered hemoglobin genes. If you know of family members who have thalassemias and you're thinking of having children, consider talking with your doctor and a genetic counselor. They can help determine your risk for passing the disorder to your children.

When is thalassemia diagnosed?

Moderate and severe thalassemias are often diagnosed in childhood because symptoms usually appear during the first 2 years of a child's life. A complete blood count (CBC), which includes measures of hemoglobin and the quantity (and size) of red blood cells.

What are the symptoms of beta thalassemia?

Symptoms of beta thalassemia include growth problems, bone abnormalities such as osteoporosis, and an enlarged spleen (the organ in the abdomen that plays a part in fighting infection). People with thalassemia can get too much iron in their bodies (iron overload), either from frequent blood transfusions or from the disease itself.

How many proteins are in hemoglobin?

Four protein chains make up hemoglobin — 2 alpha globin and 2 beta globin chains. There are 2 major types of thalassemia – alpha thalassemia and beta thalassemia – named after defects that can occur in these protein chains.

How many beta globin genes are there?

There are normally 2 beta globin genes, one from each parent. Beta thalassemia is a change in 1 or both of the beta globin genes. This chart describes the different types of beta thalassemia.

Why do we need iron chelation?

Iron chelation is removal of excess iron from the body. A danger with blood transfusions is that they can cause iron overload, which may in turn causedamage to other organs.

What is the treatment for thalassemia?

Standard treatments for patients with thalassemia major are blood transfusions and iron chelation. Blood transfusion involves injection of red blood cells through a vein to restore normal levels of healthy red blood cells and hemoglobin.

How many genes are needed to make alpha globin?

Four genes, 2 from each parent, are required to make alpha globin protein chains. When 1 or more genes are missing, it produces alpha thalassemia. This chart describes the different types of alpha thalassemia.

What is the CDC's partnership with Cooley's Anemia Foundation?

CDC has partnered with the Cooley’s Anemia Foundation (CAF) to promote the health of people living with thalassemia. A major part of this program has been to provide credible health information to people with thalassemia and their families. The Foundation has developed and published a Guide for Living with Thalassemia.

What is the CDC's goal for blood transfusions?

The project aimed to reduce health problems related to blood transfusions and to improve the quality and length of life for people with thalassemia and SCD.

What blood disorders are included in the SCD project?

In addition to people with thalassemia, this project included people with sickle cell disease (SCD), Diamond Blackfan anemia, and other nonmalignant (noncancerous) blood disorders who require transfusion for treatment. This project helped to monitor those who received repeated transfusions of red blood cells, and through this monitoring, ...

When did the CDC start collecting blood samples?

In 2004, CDC started the Thalassemia Data and Blood Specimen Collection System, a monitoring system with the purpose of finding infections that might be spread through blood transfusion. It focused on patients receiving care at seven CDC-funded Thalassemia Treatment Centers (TTCs).

Does CAF have a guide for living with thalassemia?

The Foundation has developed and published a Guide for Living with Thalassemia. CAF has also increased their social media presence and conducted outreach to people with thalassemia to increase access to credible health information on thalassemia and increase participation in their patient outreach program.

Do people with thalassemia need blood transfusions?

Red blood cell transfusions are an important part of medical care for many people with thalassemia. Although some people with thalassemia never need a transfusion, others may have infrequent needs, ...

What is the prevalence of hypothyroidism in thalassemia?

The prevalence of hypothyroidism in thalassemia is approximately 8-10%, thus annual screening with free thyroxine (T4) and TSH concentration is recommended [2, 25]. Hypoparathyroidism occurs in 2% of North American patients with thalassemia and is associated with severe iron overload [25, 33].

What is chelation monitoring?

Monitoring of chelation therapy includes assessment of efficacy through monitoring of iron burden (see above) as well as evaluation for potential adverse effects related to chelation therapy. Currently, three chelators are licensed for use in the U.S.: deferoxamine, deferasirox, and deferiprone.

Can thalassemia be treated with diphenhydramine?

All patients with thalassemia should be monitored for allergic and febrile transfusion reactions, which typically occur during or immediately after transfusion. Premedication with acetaminophen and diphenhydramine should be considered in patients with a history of febrile or urticarial reactions, respectively.

Why is HB Barts incompatible with life?

Because no sustainable amount of α globin chains is produced, this state is usually considered to be incompatible with life. Excess γ globin chains result in the formation of Hb Barts. Due to its high affinity for oxygen, it is not able to efficiently transport oxygen to the tissues of the developing fetus.

Is there a 50% reduction in normal globin chain production?

There is now a 50% reduction in normal α globin chain production. In adults, increased production of red blood cells is able to compensate for the decrease in α chain production, and α and β globin chain production is balanced. Patients are asymptomatic and any anemia present is mild.

Is a benign HB Barts mutation asymptomatic?

Patient is asymptomatic and the mutation is benign. In newborns, there is an excess production of γ globin chains. These γ globin chains tend to also form tetramers and result in Hemoglobin Barts (Hb Barts). Hb Barts has a high oxygen affinity and is inefficient for oxygen delivery to the tissues of the developing fetus.

Is hemoglobin disorder a major or minor disorder?

This is considered to be a quantitative hemoglobin disorder and is categorized by the affected globin chain (alpha or beta), and as major or minor depending on the severity of the disease. 1,2.