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Ghosal hematodiaphyseal dysplasia (GHDD) is a rare autosomal recessive disorder presenting with steroid-responsive anemia and diaphyseal dysplasia of long bones. We report a 3-year-old Iranian girl with refractory anemia, splenomegaly and radiologic signs of metadiaphyseal dysplasia in long bones. The diagnosis was established by clinical presentation and X-ray bone survey. The patient was treated with oral prednisolone therapy with considerable improvement in anemia and splenomegaly.

The platelet peroxidase (PPO) content of circulating thrombocytes was determined in 10 healthy controls and in 18 cases of acquired refractory anaemia (2 with refractory anaemia, 4 with sideroblastic refractory anaemia, 8 with refractory anaemia with excess of blasts, 3 with refractory anaemia in transformation and 1 with chronic myelomonocytic leukaemia). The thrombocytes of the controls were invariably PPO-positive. No peroxidase deficiency was found in the 4 patients with sideroblastic refractory anaemia. Of the remaining 14 cases PPO-positive and PPO-negative thrombocytes coexisted in 8. Only in 1 case of refractory anaemia with excess of blasts were circulating platelet peroxidase-positive micromegakaryocytes demonstrated. PPO deficiency seems to be an important dysthrombopoietic feature detectable only at an ultrastructural level.

A case of refractory anemia with an excess of blasts in transformation, secondary to irradiation, and leading ultimately to acute lymphoblastic leukemia, is presented. Commonalities and differences between acute lymphoblastic and nonlymphoblastic leukemias secondary to radiotherapy are discussed.

Les 2 types d'anemie refractaire avec exces de blastes (AREB), l'AREB et l'AREB en remission, definis par le groupe de collaboration FAB, different par l'intensite de l'insuffisance medullaire mais non en matiere de pronostic, evolution de la maladie en transformation leucemique et il n'existe aucune raison d'adopter un programme therapeutique different

An aplastic crisis associated with parvovirus infection occurred in a patient suffering from hereditary erythrocytic multinuclearity associated with a positive acidified (Hams) test (HEMPAS). This case emphasises that any patient who has a shortened red cell survival is susceptible to an aplastic crisis induced by parvovirus.

A further instance of the 5q-chromosome associated with a distinct type of aregenerative anemia strengthened the hypothesis of specificity and consistency of this karyotypic abnormality in a new hematologic entity. The Giemsa banding technique revealed that the deletion of the long arms of chromosome number 5 was interstitial: del (5) (pter leads to q12 : : q31 leads to qter).

The survival of MDS patients without detectable circulating CFU-GM (median = 188 days) was significantly lower than those in whose peripheral blood CFU-GM were detected (median greater than 1000 days) (p less than 0.01). About half of those with detectable PB-CFU-GM died within 2 yr whilst the remainder survived more than ca 3 yr. There was no significant difference in the distribution of patients having 0-5% and greater than 5% marrow blast cells within the three groups.

7 observations d'abces importants chez des malades âges atteints de syndromes myelodysplasiques, sans neutropenie, ce qui pose des problemes de diagnostic

The recent development of a clearer understanding of pernicious anemia and of the conditions which are allied to it has made more prominent the anemic states which do not respond to adequate therapy with liver extract or with iron. These refractory anemias have been long recognized but have been classified loosely as severe secondary, aregenerative or aplastic anemia. Insufficient information has been available, however, to warrant any conclusions concerning the fundamental nature of the conditions. For this reason, a clinical and experimental study of refractory anemia has been made at the Hospital of the Rockefeller Institute. In the series, all those patients have been included who were referred to the institution with anemia of severe degree which did not respond to the usual therapeutic methods. In this way a suitable cross section of the problem as it presents itself to the practitioner was obtained. The diagnosis of refractory anemia can

Excerpt Since Waltner and Waltner1first discovered that cobalt produces polycythemia in animals, physicians have attempted to employ this element in the therapy of anemia. One group of anemias that...

Epidermolysis bullosa letalis (EBL), an autosomal recessive disorder, is usually fatal in early infancy. Patients surviving the neonatal period generally have a moderate to severe refractory anemia, the pathogenesis of which has never been clarified. Hematological studies were performed in two brothers, ages 12 and 13, with documented EBL. Results included low normal erythrocyte survivals, accelerated plasma iron clearance, mildly decreased erythrocyte iron utilization, and increased plasma iron turnover. Absorption of orally administered iron was demonstrated in both patients. Our findings support the belief that the anemia cannot be attributed to a single mechanism, but represents the anemia of chronic inflammation and infection complicated by iron and protein loss via the skin. Therapy for the anemia must include not only replacement iron in large doses, but also meticulous skin care.

IN OCTOBER, 1960, an example of severe refractory anemia of pregnancy was reported. The condition responded only to blood transfusions; delivery was by cesarian section; and it was concluded that regardless of the severity, this diagnosis does not warrant therapeutic abortion except when proper facilities for observation and management are not available. Blood levels returned to normal after delivery and remained there without further support. One year after delivery the same patient again became pregnant with a hydatid mole. There was prompt, and more marked, recurrence of anemia and extreme thrombocytopenia. Our efforts to deal with this were to no avail, and the mole was removed by hysterectomy. After operation the blood levels promptly returned to normal, and have so remained since this time. This case is reported as a dramatic clinical problem, and as an additional example of a rare, but most important complication of pregnancy. Also, the extreme

ACQUIRED porphyria cutanea tarda (PCT) is a disorder of hepatic porphyrin metabolism occurring usually in middle-aged alcoholics, manifested clinically by cutaneous photosensitivity and characterized biochemically by the excessive excretion of uroporphyrin in the urine and stool and the presence of uroporphyrin in the plasma. Hypersideremia and hemosiderosis are frequent findings in PCT and may be related to excessive dietary iron and augmented intestinal iron absorption associated with chronic alcoholism.1-6The observation that repeated phlebotomies are followed by a reduction in uroporphyrin excretion and marked clinical improvement in patients with PCT suggests that iron may play an important role in uroporphyrin synthesis.4,7 In 1963, two cases of hemolytic anemia associated with PCT were reported from France.8,9Shortly afterward, the first known case of PCT associated with a refractory anemia was reported by Kyle et al.10The combination of PCT and primary refractory anemia is not only a rare occurrence but one

S 2. The Erythrocyte-Stimulating Factor in Serum and Urine in Congenital Hypoplastic Anemia Denman Hammond* andGeoffrey Keighley,* Childrens Hospital of Los Angeles, University of Southern California, and California Institute of Technology Introduced by Phillip Sturgeon In this clinic the diagnosis of congenital hypoplastic anemia is reserved for patients with (1) onset of anemia in early infancy, (2) specific erythroid hypoplasia of marrow, (3) reticulocytopenia, and (4) absence of significant splenomegaly. The syndrome is considered a congenital, pure, red cell anemia. Eighteen such patients are under the care of this clinic and have been managed for varying periods of years. On the basis of differences in clinical course, they may be separated into groups as follows: (1) four patients with complete or partial spontaneous remission, (2) seven patients with complete or partial remission on steroid therapy, and (3) seven patients with severe refractory anemia requiring a transfusion every

Excerpt Patients receiving androgen therapy for metastatic carcinoma of the breast have been observed to show increased erythropoietic activity of a degree which may raise subnormal blood counts to...