Thalassemia Intermedia Clinical Presentation

  • Author: Hassan M Yaish, MD; Chief Editor: Robert J Arceci, MD, PhD   more...
 
Updated: Feb 6, 2012
 

History and Physical Examination

The history in thalassemia intermedia usually depends on the patient's age at diagnosis and the severity of the condition at onset. Patients with mild cases show no significant symptoms and may go undiagnosed. The physical examination findings also vary according to severity and stage of the disease. Pallor is almost always present to some degree. Younger patients who are seen early may show only minimal findings upon examination, such as pallor or splenomegaly.

The patient might seek medical advice because of a family history of thalassemia or the knowledge that both parents are carriers of a thalassemic condition.

In moderately severe cases, patients or their family members may observe slight pallor, slight yellowish discoloration of the sclerae, or enlarged abdomen. Low hemoglobin (Hb) levels or an enlarged spleen upon routine physical examination may represent the first indication of the disease.

In more severe forms, the patient may seek medical advice because of malaise, pallor, easy fatigability, or bone deformities or fractures. Abnormal facies with prominent facial bones and dental malocclusions are observed in patients with severe disease who are untreated. Growth retardation and failure to thrive are also commonly found in this group of patients. An enlarged spleen is a common finding.

In extremely rare circumstances, a patient with anemia and an enlarged abdomen may develop a serious unexpected symptom, such as paralysis. This usually reflects transverse myelopathy that results from compression of the spinal cord by a tumorlike mass of extramedullary hematopoietic tissue. In such patients, detailed workup reveals the correct diagnosis.

Proceed to Differential Diagnoses
 
 
Contributor Information and Disclosures
Author

Hassan M Yaish, MD  Professor of Pediatrics, University of Utah School of Medicine; Director of Hematology Services, Medical Director, Mountain States Hemophilia and Thrombophilia Treatment Center; Pediatric Hematologist/Oncologist, Department of Pediatrics, Primary Children's Medical Center

Hassan M Yaish, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Michigan State Medical Society, and New York Academy of Sciences

Disclosure: Nothing to disclose.

Chief Editor

Robert J Arceci, MD, PhD  King Fahd Professor of Pediatric Oncology, Professor of Pediatrics, Oncology and the Cellular and Molecular Medicine Graduate Program, Kimmel Comprehensive Cancer Center at Johns Hopkins University School of Medicine

Robert J Arceci, MD, PhD is a member of the following medical societies: American Association for Cancer Research, American Association for the Advancement of Science, American Pediatric Society, American Society of Hematology, and American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Additional Contributors

James L Harper, MD Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Assistant Clinical Professor, Department of Pediatrics, Creighton University; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center

James L Harper, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Federation for Clinical Research, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Council on Medical Student Education in Pediatrics, and Hemophilia and Thrombosis Research Society

Disclosure: Nothing to disclose.

J Martin Johnston, MD Associate Professor of Pediatrics, Mercer University School of Medicine; Director of Pediatric Hematology/Oncology, Backus Children's Hospital; Consulting Oncologist/Hematologist, St Damien's Pediatric Hospital

J Martin Johnston, MD is a member of the following medical societies: American Academy of Pediatrics and American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

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Peripheral blood film in thalassemia intermedia.
Basophilic stippling in thalassemia intermedia.
Nucleated red blood cell in thalassemia intermedia.
 
 
 
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