Hepatic and cardiac iron load as determined by MRI T2* in patients with congenital dyserythropoietic anemia type I.

Iron overload comprises one of the main complications of congenital dyserythropoietic anemia type I (CDA-I). When analyzing magnetic resonance imaging T2* (MRI T2*) results in CDA patients, two previous studies reported discordant results regarding iron load in these patients. To further understand iron loading pattern in this group of patients, we analyzed MRI T2* findings in 46 CDA-I patients. Mild to moderate hepatic iron overload was detected in 28/46 (60.8%) patients. A significant correlation was found between serum ferritin and liver iron concentration (LIC). A significant correlation (p value = 0.02) was also found between the patient's age and LIC, reflecting increased iron loading over time, even in the absence of transfusion therapy. Notably, no cardiac iron overload was detected in any patient. Transfusion-naive patients had better LIC and better cardiac T2* values. These results demonstrate that a high percentage of CDA-I patients have liver iron concentration above the normal values, risking them with significant morbidity and mortality, and emphasize the importance of periodic MRI T2* studies for direct assessment of tissue iron concentration in these patients, taking age and transfusional burden into consideration.

Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a.

The congenital dyserythropoietic anemias (CDAs) are a group of rare inherited blood disorders characterized by ineffective erythropoiesis as the principal cause of anemia. We present a child with CDA 1b-the rarest and least well-described type-due to a mutation in the C15orf41 gene. The patient presented with severe in utero and neonatal manifestations, typical peripheral limb anomalies as well as rarely reported cardiac manifestations, visual impairment, short stature, and hip dysplasia. Anemia was complicated by iron overload and pronounced extra medullary erythropoiesis leading to skull deformities. The patient responded to treatment with pegylated interferon alfa-2a.

Localization of extramedullary hematopoiesis with Tc-99m-labeled monoclonal antibodies (BW 250/183).

Extramedullary hematopoiesis is of special interest to physicians because of its relation to hematologic disease. Because it normally remains asymptomatic, sites are typically found by chance. Effective diagnosis involves a specific, reliable, whole-body and low-cost method of screening. Although radiologic methods such as computed tomography and magnetic resonance imaging can only suggest the presence of extramedullary hematopoiesis, apart from invasive and therefore risky biopsy procedures, only scintigraphy can detect and confirm the nature of hematopoietic tissue. Although radioactive tracers commonly in use partly lack the demands for specific diagnosis, Tc-99m-labeled antibodies (NCA-95) seem to combine the advantages of different scintigraphic approaches. Two patients with dyserythropoetic anemia and paravertebrally situated pelvic and thoracic tumor masses were studied for extramedullary hematopoiesis. Planar and SPECT images were obtained 6 and 24 hours after injection of 800 to 850 MBq (22 to 23 mCi) Tc-99m-labeled monoclonal antibodies (BW 250/183). In both patients, tracer accumulated in the masses, thereby revealing hematopoietic tissue. Biopsy confirmed these findings. By using Tc-99m-labeled monoclonal antibodies to detect extramedullary hematopoiesis, the demands of diagnosis were met. As an alternative to invasive diagnostic procedures, this tracer combines the advantages of other radioactive substances previously used, such as radioiron, In-111 chloride, and Tc-99m colloids. This low-cost agent is readily available and when applied, reliable, and delivers whole-body images free of additional uptake in the liver or spleen.

Extramedullary hematopoiesis. Demonstration by transmission and emission computed tomography.

Extramedullary hematopoiesis occurring in the thorax is a well-known complication of a number of various blood dyscrasias, and its appearance with planar Tc-99m sulfur colloid marrow scintigraphy and transmission computed tomography (CT) has been described previously. The authors present a case of thoracic extramedullary hematopoiesis evaluated by CT and emission computed tomography (ECT).