Mortality, health care utilization and associated diagnoses in hospitalized patients with haemophilia in the United States: first reported nationwide estimates.

To describe the in-hospital epidemiology of haemophilia A and B in the US we analysed the National Inpatient Sample (NIS), a stratified probability sample of 20% of all hospital discharges in the US for the year 2007. We applied sampling weights to represent all hospital discharges for haemophilia A and B identified using ICD-9 codes 286.0 and 286.1, respectively. Haemophilia (A or B) was one of all the listed diagnoses in 9737 discharges and principal diagnosis in 1684 discharges. The most common associated diagnoses in discharges with Haemophilia in adults and children were hypertension (28.1 ± 1.6%) and central line infections (15.2 ± 1.8%) respectively. No Hepatitis C or HIV was reported in children. Among 212 deaths, associated diagnoses included sepsis (37.9%), heart failure (30.2%), respiratory failure (28.3%), pneumonia (24.5%), HIV (14.2%), hepatic coma (5.2%) and intracranial haemorrhage (2.3%). All fifteen reported paediatric deaths occurred on day zero of life, the commonest associated diagnoses being Intraventricular haemorrhage and newborn haemorrhage-NOS (33% each). Median age of in-hospital mortality for diagnosis of Haemophilia was 68.3 years as compared to 72.3 years for all males for all hospitalizations in NIS combined. Mean hospital charges for haemophilia of $76823 ± 5530 were significantly higher than those from all causes of hospitalization of $26,120 ± 562. In-hospital mortality is rare in children with haemophilia beyond the neonatal period and age of mortality in adults is approaching that of the general male population. Hospitalization in children is most often due to central line infections and hospitalization and death in adults is primarily due to age-related illnesses.

Structured telephone-based outreach using nonmedical personnel can improve adherence to comprehensive care in families of children with sickle cell disease.

Comprehensive medical care of patients with sickle cell disease decreases morbidity, mortality, and health care resource utilization. Nonadherence to comprehensive care is a barrier to further improvement in the outcomes of these patients. We investigated the feasibility and acceptability of telephone-delivered structured follow-up, support, and education provided by nonmedical personnel and its impact on adherence to comprehensive measures. A semistructured script was designed that included a series of questions relating to the patient's well-being and health-related behaviors and was administered by a graduate student researcher in genetics. Families of all 202 children followed at Children's Hospital of Pittsburgh were attempted to be contacted at 3 monthly intervals from their last contact. A total of 76% [147] of those called were available and willing to talk. Eighteen months after initiation of the study, the number of patients who had not attended comprehensive care clinic for 2 years or more decreased from 46 (19.7%) to 23 patients (9.9%) (P = 0.0019). Similarly, the proportion of eligible patients who had undergone transcranial Doppler screening within the past 12 months increased from 34 to 49% (P = 0.0501). Structured telephone-based follow-up is feasible and well accepted and can lead to improved adherence with comprehensive care measures.

Availability of unrelated donors for hematopoietic stem cell transplantation for hemoglobinopathies.

Hematopoietic stem cell transplantation (HSCT) is the only curative option for patients with hemoglobinopathies. However, fewer than 30% of individuals will have an HLA-identical sibling. Improvement in outcomes after HSCT using unrelated donors (URD), and the development of novel nontoxic preparative regimens may make URD HSCT an option for hemoglobinopathy patients who do not have an HLA-identical sibling donor. The National Marrow Donor Program (NMDP) maintains a Registry of 4 million volunteer donors, and facilitates URD HSCT for patients with life-threatening blood diseases. In light of the increased representation of minorities in the NMDP registry, donor searches were run in April 2001 for a cohort of 272 thalassemia patients and 77 sickle cell disease (SCD) patients for whom searches had been submitted between 1989 and 2001 in order to determine the current likelihood of finding a potential donor of hematopoietic stem cells for hemoglobinopathy patients. About 59.7% SCD patients 80.2% thalassemia patients will find at least one potential 6/6 HLA matched donor or umbilical cord blood (UCB) unit. All patients will find at least one donor or UCB that is a potential 5/6 HLA match. In conclusion the majority of hemoglobinopathy patients will find at least one potential HLA matched unrelated bone marrow donor or UCB.

Paris-Trousseau syndrome platelets in a child with Jacobsen's syndrome.

The thrombocytopenia in an infant with clinical features of Jacobsen's syndrome characterized by multiple congenital anomalies, cardiac defects, psychomotor retardation, and deletion of chromosome 11 at 11q23.3 has been evaluated. Study of his platelets in the electron microscope revealed giant alpha granules in his cells identical in appearance to those reported in the family with Paris-Trousseau syndrome. As a result, the Paris-Trousseau syndrome appears to be a variant of the Jacobsen syndrome, and the thrombocytopenia observed in all cases of chromosome 11q23.3 deletion due to dysmegakaryopoieses. Giant alpha granules are frequently observed in normal platelets during long-term storage and may form in Jacobsen and Paris-Trousseau platelets during prolonged residence in the bone marrow.

Few reports of hemoglobin E/beta-thalassemia in Northeast India: underdiagnosis or complete exclusion of beta-thalassemia by hemoglobin E.

PURPOSE: India bears a major burden of homozygous beta-thalassemia. Hemoglobin (Hb) E/beta-thalassemia has been described mainly among Bengalis in Eastern India. Ethnic groups in northeastern India have among the highest known gene frequency for Hb E. However, there are few reports of Hb E/beta-thalassemia from these ethnic groups. This study aims to determine whether the paucity of reports of Hb E/beta-thalassemia from this region are because of underdiagnosis or complete elimination of beta-thalassemia by Hb E. POPULATIONS AND METHODS: The published literature concerning Hb E, beta-thalassemia, and the syndrome of Hb E/beta-thalassemia in Indid, Tibeto-Burman, and Austro-Asiatic ethnic groups in northeast India was analyzed to determine the gene frequency of Hb E and beta-thalassemia for different ethnic groups. The expected cases of Hb E/beta-thalassemia were calculated using the Hardy-Weinberg law. RESULTS: The Bodo-Kachari have a gene frequency of 0.50 for Hb E, the highest anywhere in the world. There are, however, no reports of beta-thalassemia in this group. Among ethnic groups in which prevalence of Hb E and beta-thalassemia are known, there is a vast discrepancy between the reported number of cases of Hb E/beta-thalassemia and the number predicted by Hardy-Weinberg law. Thus, there are only seven cases of Hb E/beta-thalassemia from northeast India reported in the literature as opposed to 67,332 predicted cases. CONCLUSION: A potentially large pool of unsuspected Hb E/beta-thalassemia cases exist in northeast India. The significance of this finding and possible contributory factors are discussed.

Coinheritance of alpha-thalassemia-1 and hemoglobin E/beta zero-thalassemia: practical implications for neonatal screening and genetic counseling.

Hemoglobin E (HbE), alpha-thalassemia, and beta-thalassemia are common among Southeast Asians and often occur in compound heterozygous states that complicate neonatal screening. We describe a kindred with alpha-thalassemia-1, HbE, and beta zero-thalassemia. The proband had HbE/beta zero-thalassemia, with severe anemia and failure to thrive. His father also had HbE/beta zero-thalassemia but had coinherited alpha-thalassemia-1 and was free of symptoms.

Anti-D immunoglobulin in the treatment of idiopathic thrombocytopenic purpura.

Anti-D was evaluated in 8 RhD positive patients (6 males, 2 females) aged 2-21 years (mean 10 years) with Idiopathic Thrombocytopenic Purpura (ITP). Five patients with chronic ITP and 3 patients with acute ITP were administered Anti-D in the dosage of 50 micrograms/kg intramuscularly (IM) for 3 consecutive days. One patient of chronic ITP received two courses of Anti-D. Patients were followed up for 7 to 16 months (mean 9 months). All three cases of acute ITP had a complete response and are in remission between 3 to 12 months of follow up. Two of five cases of chronic ITP had a partial response. Rise in platelet count was observed within 72-124 hours, and duration of response varied between 10 to 15 days. None of these patients had any significant side effects of anti-D immunoglobulin therapy. Intramuscular administration of Anti-D is safe, effective and low cost alternative to IVIgG in the treatment of acute ITP.