We suggest that similar to congenital dyserythropoietic anemia type I, distal anomalies may appear in some patients with congenital dyserythropoietic anemia types II and III. [ncbi.nlm.nih.gov]

Age at onset of pallor ranged from birth to 9 years. Blood transfusion requirements varied from nil to monthly. This is the first report of CDA type I from India. [ncbi.nlm.nih.gov]

On the other hand chronic blood loss is characterized by pallor out of proportion to distress and possibly signs of congestive cardiac failure, including hepatomegaly. [oncologynurseadvisor.com]

Symptoms & Diagnosis The most common symptoms of CDA include: Fatigue Lack of energy Jaundice Pale skin (pallor) Enlarged spleen or liver Formation of gallstones Skeletal abnormalities, including missing fingers and toes CDA is diagnosed with: Blood tests [danafarberbostonchildrens.org]

Physical signs include pallor, signs of a hyperkinetic circulation (tachycardia, wide pulse pressure with capillary pulsation, cardiac murmurs), signs of congestive cardiac failure, and hemorrhages and exudates in the retina. [clinicalgate.com]

CASE REPORT The patient was born to nonconsanguineous, healthy parents without a family history of anemia. The mother, gravida 3, para 2, had a stillbirth of unknown cause at 38 weeks gestations. [journals.lww.com]

A massive hydropic newborn born with a very severe anemia (Hb 4.8 g/dL), diffuse edema, hepatosplenomegaly, ascites, pulmonary edema and respiratory distress, and shortness and hallux varus deformity of the great toe of the right foot was diagnosed to [ncbi.nlm.nih.gov]

We identified a child with KLF1-E325K congenital dyserythropoietic anemia type IV who experienced a severe clinical course, fetal anemia, hydrops fetalis, and postnatal transfusion dependence only partially responsive to splenectomy. [ncbi.nlm.nih.gov]

These patients display a severe clinical course and require regular transfusions. In none of them has any other B criterion been positive. [doi.org]

A 24-year-old white female with a 10-year history of juvenile rheumatoid arthritis and splenomegaly developed numerous circulating nucleated red blood cells (NRBC) following splenectomy for chronic abdominal pain. [ncbi.nlm.nih.gov]

Distal limb anomalies including syndactyly, hypoplastic nails, and duplication of fourth metatarsal bone were described in 4%-14% of affected individuals. Lumbar scoliosis resulting from a partly duplicated L3 vertebra was also described. [ncbi.nlm.nih.gov]

This association may suggest a stem cell defect to cause both hematopoietic and cutaneous manifestations. [ncbi.nlm.nih.gov]

Here we presented a piebald woman with vaginal atresia who was tested for anemia and diagnosed as CDA type II. Piebaldism and anemia association were previously described in the mouse. [ncbi.nlm.nih.gov]

Three of the four affected family members with congenital dyserythropoietic anemia type III had partial absence of fingers, small or absent nails, overlapping toes, and short metatarsals. [ncbi.nlm.nih.gov]

In both patients 400 ml of blood were withdrawn every month. During three years 12 200 ml of blood were removed. The serum ferritin levels decreased from 1450,4 microg/L and 1131,7 microg/L to 447 microg/L and 457 microg/l, respectively. [ncbi.nlm.nih.gov]

Thus unexpected correction of a chronic refractory anemia associated with the appearance of mediastinal masses might be the heralding manifestation of an effective extramedullary hemopoiesis. [ncbi.nlm.nih.gov]

Electron microscopy may be an important tool for the diagnosis of macrocytic anemia of obscure origin, especially in young patients. [ncbi.nlm.nih.gov]

Herein is described the case of a young woman presenting with iron overload and macrocytosis. The initial diagnosis was hereditary hemochromatosis. [ncbi.nlm.nih.gov]

The disorder is characterized by mild anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts (containing up to 12 nuclei) in the bone marrow. [rarediseases.info.nih.gov]

Three major types have been described: Type I with macrocytosis, Type II (HEMPAS) with abnormal RBC antigens,and Type III with gigantoblasts. [nature.com]

On this treatment, hemoglobin and reticulocytes increased and transfusions became unnecessary. In keeping with a few previous reports, interferon alpha2b proved to be effective in congenital dyserythropoietic anemia, type 1. [ncbi.nlm.nih.gov]

If the direct antiglobulin test is negative, hemolysis in infancy can usually be recognized if the reticulocyte count is increased and/or the hemoglobin decreases rapidly in the absence of hemorrhage. [oncologynurseadvisor.com]

Infection with human parvovirus B19 is known to cause transient erythroid aplasia in children with hemolytic anemia but has also been associated with bone marrow necrosis and morphologic changes suggesting myelodysplasia. [ncbi.nlm.nih.gov]