A study on sickle cell anemia

The NHLBI funds basic research and large clinical trials and conducts scientific workshops and consensus meetings. The NHLBI has convened an expert panel to develop sickle cell disease clinical practice guidelines to help providers give the best care to patients.

A study on sickle cell anemia

A Year-Old Boy With Normocytic Anemia and Bone Pain The following case study focuses on a year-old boy from Guyana who is referred by his family physician for jaundice, normocytic anemia, and recurrent acute bone pains.

Test your knowledge by reading the background information below and making the proper selections. Click image to enlarge Complete blood count CBC reveals a hemoglobin of 6.

Blood film revealed numerous sickle cells. Sickle solubility test is positive.

A study on sickle cell anemia

Hb SC compound heterozygote b. Hb SS homozygote c. Non-contrast computed tomography of the brain demonstrated an acute right MCA infarct. The patient has no history of thromboembolic disease, no family history of venous or arterial thrombosis, and no artherosclerotic risk factors for stroke.

You are consulted as the hematologist on call along with stroke team. What would be the best treatment option for this patient? Acetylsalicylic acid mg chewable b. Red cell exchange transfusion with target hematocrit of 0. Unfractionated heparin IV infusion Answers: High-performance liquid chromatography HPLC and hemoglobin gel electrophoresis are the two most commonly employed techniques in the investigation of hemoglobinopathies.

The diagnosis of any sickling disorder, however, requires two laboratory investigations, one of which must be the sickle solubility test.

The lower limit of detection of hemoglobin S in a sickle solubility test is approximately 15 to 20 percent. All possibilities listed in question 1 will result in a positive sickle solubility test, provided that it is not performed under the following conditions: Hemoglobin gel electrophoresis separates hemoglobin variants based on the overall charge of the hemoglobin molecule.

There is a single band aligned at the S position on the alkaline gel pH 8. Several other hemoglobin variants co-migrate with the S on the alkaline electrophoresis, the most notable of which are hemoglobin D, G, and Lepore. On the acid gel pH 6.

One comment

The interpretation most compatible with the evidence provided above is that the patient is an Hb SS homozygote. He cannot be an Hb SC compound heterozygote, or there would be two bands on the alkaline and acid gel, at the S and C positions, respectively.

The yearly stroke rate of a child with SCD is between 0. Moreover, 22 percent of SCD patients have evidence of silent cerebral infarcts. Risk factors for stroke include prior transient ischemic attack, low steady-state hemoglobin, acute chest syndrome, and elevated systolic blood pressure.

In an acute setting, the only feasible means of achieving this goal is by exchange transfusion. Although transfusion has not been tested as part of a randomized control trial in SCD patients with acute stroke, retrospective cohort studies have demonstrated that transfusion can reduce the acute mortality and morbidity with the aggressive use of exchange transfusion at presentation.

STOP2 further shows that the discontinuation of transfusion for SCD patients with elevated transcranial Doppler velocity results in a reversion to high rate of stroke. Currently, the Silent Cerebral Infarct Transfusion SIT trial is evaluating whether transfusion will reduce the risk of overt strokes or further silent infarcts in patients with proven silent cerebral infarcts.

The author would like to acknowledge Dr. Brien from Hospital for Sick Children, Toronto, Ontario, Canada, for providing the image of the alkaline and acid gel electrophoresis.

Further Reading Bain BJ. Haemoglobinopathy Diagnosis, 2nd ed. Big strokes in small persons.Distinguishing differences - compare and contrast normal red blood cells and sickle red blood cells Knowledge application - use your knowledge to identify the proper function and structure of red blood cells Additional Learning.

To learn more about this disease, review the accompanying lesson called Sickle Cell Anemia: Definition & Explanation.

Sickle cell disease - Wikipedia

Sickle Cell Anemia Case Study Research Paper Alexandria Agee Ms. Songer AP Biology February 16 Sickle Cell Anemia: Case Study Summary Sickle Cell Anemia is a painful diseases that is caused by a mutation in the protein called hemoglobin which helps carry oxygen in red blood cells.

Complete blood count (CBC) reveals a hemoglobin of g/dL, MCV fL, platelet count , /µL, white blood cell count 9, /µL, absolute neutrophil count 8, /µL, reticulocyte count 7 percent, and bilirubin 84 mg/dL.

Blood film revealed numerous sickle cells.

Studies of Sickle Cell Anemia

Sickle solubility test is positive. A case study of the effects of mutation: Sickle cell anemia. Sickle cell anemia is a genetic disease with severe symptoms, including pain and anemia. The disease is caused by a mutated version of the gene that helps make hemoglobin — a protein that carries oxygen in red blood cells.

People with two copies of the sickle cell gene have the disease. Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents. The most common type is known as sickle cell anaemia (SCA).

It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. This leads to . Start studying Sickle Cell Anemia Hesi Case Study. Learn vocabulary, terms, and more with flashcards, games, and other study tools.

Case Study: A Year-Old Boy With Normocytic Anemia and Bone Pain