‌

Beta-thalassemia

00:00 / 00:00

‌‌

‌

‌‌‌‌‌‌‌‌‌‌

High Yield Notes

6 pages

Questions

USMLE® Step 1 style questions USMLE

of complete

A 2-year-old boy is brought to the clinician by his parents due to easy fatigability and growth delay. They recently immigrated to the United States. The mother did not receive any prenatal care in her home country. The child was born at term by a normal vaginal delivery. He is at the 30th percentile for length and below the 10th percentile for weight. Temperature is 37.2°C (98.9°F), pulse is 115/min, respirations are 25/min, and blood pressure is 85/60 mmHg. Abdominal examination shows hepatosplenomegaly. Hematological tests and hemoglobin electrophoresis are obtained:

Laboratory value Result
Hemoglobin (Hb) 10.8 g/dL
Hematocrit (Hct) 32%
Erythrocyte count 5.7 million/mm3
Hemoglobin A2 (HbA2) 6.5%
Fetal hemoglobin (HbF) 60%
Hemoglobin A (HbA1) None
Hemoglobin S (HbS) None

Which of the following is the most likely diagnosis?

External References

First Aid

2024

2023

2022

2021

α-thalassemia p. 423

β -thalassemia p. 425

allelic heterogeneity p. 55

intron/exon splicing variants p. 41

Hepatosplenomegaly

β -thalassemia and p. 425

Thalassemia p. 420

in anemia taxonomy p. 423

target cells in p. 420

External Links

Medscape

Wikipedia

Summary

Thalassemia (British English: thalassaemia), also called Mediterranean anemia, is a form of inherited autosomal recessive blood disorder characterized by abnormal formation of hemoglobin. The abnormal hemoglobin formed results in improper oxygen transport and destruction of red blood cells. Thalassemia is caused by variant or missing genes that affect how the body makes hemoglobin, the protein in red blood cells that carries oxygen. People with thalassemia make less hemoglobin and have fewer circulating red blood cells than normal, which results in mild or severe microcytic anemia.

Sources

"Robbins and Cotran Pathologic Basis of Disease, Professional Edition E-Book" Elsevier Health Sciences (2014)

"Contemporary Internal Medicine" Springer Science & Business Media (2012)

"Molecular Pathology in Clinical Practice" Springer Science & Business Media (2007)

"Guidelines for the Clinical Management of Thalassaemia" NCBI (2007)

Cookies are used by this site.

Terms and Conditions

Cookie Notice

Sitemap

USMLE® is a joint program of the Federation of State Medical Boards (FSMB) and the National Board of Medical Examiners (NBME). COMLEX-USA® is a registered trademark of The National Board of Osteopathic Medical Examiners, Inc. NCLEX-RN® is a registered trademark of the National Council of State Boards of Nursing, Inc. Test names and other trademarks are the property of the respective trademark holders. None of the trademark holders are endorsed by nor affiliated with Osmosis or this website.